All about: the rare diseases [1]

Krankheiten und Bedingungen

  • What are rare diseases?
  • What is Kawasaki disease
  • What is Huntington's disease?
  • What is Wilson's disease
  • What is Scleroderma
  • What is sclerosis (ALS) amyotrophic lateral and causes
  • What is cystic fibrosis?
  • What is hemophilia?
  • What is lupus?
  • Autoimmune myasthenia gravis

What are rare diseases?

Rare diseases are those whose incidence is less than one case for every 2,000 people, or, put another way, which accounted for less than five cases per 10,000 inhabitants. More than seven thousand rare diseases or rare have been identified, and although taken individually may seem that they affect a small group of the population, is estimated to affect 7% of the world's population. In Spain alone there are 3,000,000 people affected by any of these pathologies.
In addition, many patients do not even know what disease suffer, because of the difficulty involved in the diagnosis of conditions that few data are available (it has medical and scientific knowledge of less than 30%) - the average to diagnose these diseases is five years, and 20% takes up to 10 years to get a diagnosis- and by a shortage of professionals with specific training in the area of residence of patients that are scattered geographically, which further complicated its personalized attention once determined her wrong.
In approximately eight in ten cases the cause is usually genetic, although infectious agents, environmental factors, and other unknown causes may be the source of a rare disease. Approximately 50% of rare diseases have neurological symptoms, and more than half are beginning to manifest itself in childhood. Most of them are quite serious and disabling (75% of patients have some degree of dependency, and more than 80% physical or emotional disability), degenerative, chronic (85%) or deadly (in 50% of cases).
In Spain, according to data from the Spanish Federation for rare diseases (FEDER), 76% of patients have felt discriminated against with respect to patients with common diseases. As explains Isabel Calvo, President of ERDF, "ignorance, lack of information, the scarcity of research, the precarious experience of the professionals, the absence of specialists and a lack of coordination among experts are some of the reasons for this discrimination", and adds that "the situations of social injustice cause the impoverishment of families, who have to spend more than 20% of their income to the approach of disease" which may mean an average of €350 a month per family.
On the occasion of the celebration of the World day for rare diseases, (28 February) the ERDF, along with other groups, often spreading an awareness campaign in order to educate society so that, through the knowledge of these pathologies, understanding the problems that people face and matching means to guarantee their rights.

Rare, large unknown diseases

Most of these diseases are completely unknown to the general population; others, such as hemophilia, cystic fibrosis, amyotrophic lateral sclerosis, Duchenne muscular dystrophy, or Lupus, may be somewhat more familiar for his appearance in the media. Some, even, to know them thanks to the seventh art, although not always remember their names. Thus, Elijah, the character played by Samuel L. Jackson in the protected (directed by M. Night Shyamalan) suffers from osteogenesis imperfecta, also known as glass bone disease because a lack of collagen (protein necessary for the formation of teeth and bones) of genetic results from bone malformations, fractures, and mobility problems. In Spain are diagnosed of the disease about 500 or 600 people, although it is believed that there could be about 3,000 cases.

His reflection in the cinema

In the film life oil (Completo Lorenzo oil in original version), starring Susan Sarandon and Nick Nolte, the parents of a child affected by a strange degenerative and incurable, disease called adrenoleukodystrophy (ADL), initiated an investigation on their own to try to discover a substance that stops the degenerative process that was going to end up with the life of his son. This disease is due to an accumulation of fatty acids long-chain in the nervous system that causes degeneration of the myelin sheath (sheath of the nerve fibers), which causes such as paralysis, blindnessand neurological damage. In its most serious form the patient is in a semivegetativo State and dies before ten years. The real Lorenzo Odone lived until age 30, surpassing in more than 20 years the initial prognosis from doctors, once their parents to include in your diet a combination of oils, known as Lorenzo's oil, which does not cure the disease but, at least in his case, delay its progression. At present, the only treatment accepted by the scientific community to heal the ADL is bone marrow transplantation, but is only effective if applied in the initial stage of the disease.
Another terrible disease that gave us the creeps on the big screen is Proteus Syndrome, which causes abnormal growth of adipose tissue, muscles, bones, skin and blood vessels... deforming to the person who suffers from it, in this case John Merrick, the Elephant Manprotagonist. It is a congenital disease extremely unusual, which have been documented around 200 cases worldwide since it was identified in 1979, but it makes us reflect on the terrible stigma that may suffer a person affected by any of the many disfiguring diseases that exist.
Lateral sclerosis Amyotrophic affected American baseball player Lou Gehrig, who died because of this neurodegenerative disease in 1941. In 1942, his story was made into a film (the pride of the Yankees) and starring Gary Cooper. This disease, which affects the motor neurons, produces progressive muscle weakness, causing the death of the patient few years after diagnosis. Although much progress has been made in treatments, allowing prolong life and improve the well-being of the sick, the causes of ALS and how to prevent it or cure it are still not known.
This disease also jumped to the media because he has already finished with the lives of 39 Italian footballers, the most famous Signorini, Captain of Genoa, who died in 2002, at the age of 42. Another more recent case is that of Stefano Borgonovo, who played as a centre forward in the Milan, and suffers ELA since 2005. Failed to determine the reason for the high incidence of this disease over a group of people so concrete, and experts estimate that it may be due to a set of risk factors related to the sporting activity of those affected.
Retinitis pigmentosa, an eye condition of genetic origin with around 15,000 people in Spain, and causes a loss of progressive vision that could result in blindness, mark the life of the protagonist's dancing in the dark, by Danish director Lars von Trier.
The film has helped awaken the general interest about many rare diseases, and others with an impact limited to certain geographical areas or population groups (leprosy, tuberculosis, syphilis...). The catastrophic film also warns, rightly, that some infectious diseases that are practically non-existent in the developed countries, can be turned into a threat of epidemic in the future due to the geographical mobility of the population, which provides that a virus can travel from one end to another of the world in a few hours (as the virus of Ebola in the popfilm) emigration and, even, the bioterrorism (twelve monkeys).

Some examples of rare diseases

In the case of rare diseases the reality far surpasses fiction and experts estimate that about 7% of the European population is deeply troubled condition included under this heading. The list is very long, and rises to new diseases or variants of the already diagnosed, you will discover We have selected some that affect different organs and parts of the body, from the blood into the lungs, or even whole organism:
  • Interstitial cystitis: urological condition, in which there is a chronic inflammation of the bladder wall with inflammation of the muscle tissue, which causes a painful wall of bladder pressure, and has resulted in the presence of chronic pelvic pain, together with desire frequent and urgent urination and pain when urinating. It affects mostly young women and middle-aged.
  • Primary sclerosing cholangitis: is a chronic liver disease, in which there is a progressive inflammation of the bile ducts, often associated with ulcerative colitis.
  • Epidermolysis bullosa: hereditary disorder characterized by exaggerated fragility of the skin and mucous membranes, resulting in the formation of blisters on the skin as a result of slight friction, or even spontaneously.
  • Idiopathic pulmonary fibrosis: condition in which the lung tissue will heal and becomes rigid, having symptoms such as cough, shortness of breath, and fatigue to perform moderate exercise or daily activities, among others.
  • Pulmonary hypertension: characterized by excessively high blood pressure in the pulmonary arteries that causes the right side of the heart to work more than normal and, over time, can become enlarged and appear heart failure.
  • Common variable immunodeficiency: is a disorder of the immune system, which does not work properly. Those affected may suffer diarrhea, because foods that ingest are not properly absorbed from the gastrointestinal tract, and may also suffer from flaws in the adrenal glands, thyroiditis, and rheumatoid arthritis.
  • Myasthenia gravis: this disease, autoimmune origin, affects people of any age, race and sex, manifests itself with loss of strength and great fatigue, and presents different degrees of severity. Lack of strength can extend to the breathing muscles and cause a paralytic crisis widespread, what is known as a myasthenic crisis, is a severe, requiring hospitalization.
  • Nephronophthisis: it is a hereditary kidney disease and the leading cause of chronic kidney failure in children.
  • Progeria: deadly genetic condition, which consists of a premature and accelerated aging of children, causing developmental disabilities, loss of hair and body fat, aged skin, pain in the joints, generalized atherosclerosis, cardiovascular disorders, and stroke, among other problems.
  • Thrombocytopenic purpura (ITP) idiopathic: ITP is a chronic disease of the blood, of unknown origin, and symptoms ranging from the Mucocutaneous bleeding and menorrhagia to internal and intracranial hemorrhages.
  • Moebius syndrome: in this disease, present at the time of the birth, the development of the facial nerve is absent or diminished, resulting in disorders of the facial muscles and the jaw.

What is Kawasaki disease

Kawasaki disease is a rare disease, cause unknown, self-limited and fever blisters, which primarily affects children, and producing important alterations of blood vessels.
Also known as Mucocutaneous lymph node syndrome, the disease was first described in 1961 by the Japanese physician Tomisaku Kawasaki; in 1965 the doctor Noburu Tanaka describes the presence of an aneurysm in the coronary artery of a child who died with the disease. Subsequently, the same doctor Kawasaki published the first series of fifty cases in 1967 and called him 'Pediatric acute febrile Mucocutaneous lymph node syndrome'.
Kawasaki disease is an acute vasculitis (acute inflammation of blood vessels) that presents with fever, rash on the skin type Exanthema, and involvement of the mucous membranes and lymph nodes. The main complication is the formation of aneurysms in the coronary arteries of the heart, which can cause a fatal outcome by sudden death.
This disease is especially prevalent in Japan, where you register a prevalence of 108 cases per every 100,000 children under five years of age, which translates into about five to six thousand cases a year. In United States the prevalence is much lower, about 10 cases for every 100,000 children under five that are not of Asian origin, because in children of Asian origin the prevalence increases to 44 cases for every 100,000 children under five years of age. In Europe it is five cases per every 100,000 children under five years of age.
The average age of presentation of Kawasaki disease is between three months and four years, with one incidence higher in winter and spring.

Causes of Kawasaki disease

So far, the cause of this disease is unknown; However, several scientific evidence have allowed to raise different hypothesis on the causal agent of the disease, among whom are mentioned:
  • Epstein-Barr virus.
  • Parvovirus B19.
  • Bacteria as Staphylococcus aureus and Streptococcus pyogenes by the production of toxins.
  • Lactobacillus casei.
  • Coronavirus NL-63.
  • Cytomegalovirus.
  • Mercury.
  • Exposure to certain products for carpet cleaning.
The pathophysiology of Kawasaki disease is characterized by an acute vasculitis that affects the arteries of medium, with a certain predilection for coronary arteries, although it can also affect the veins.
There are four phases that describe how occurs the Cardiac involvement in Kawasaki disease:
  • Phase 1: 0 to 10 days. Vasculitis of the innermost layer of the coronary arteries carrying oxygen and nutrients to the heart, with or without pericarditis, myocarditis, endocarditis (involvement of heart valves), or system by which the electrical signals of the heart is lead.
  • Phase 2: 11 to 25 days. Vasculitis in all layers of the arteries (panvasculitis), with the formation of aneurysms (the wall of the blood vessel dilatation, pathologic).
  • Phase 3: 26-30 days. Spontaneous remission of inflammation of vessels.
  • Phase 4: more than 40 days. Scarring and stricture (narrowing), with fibrosis of the territories that have been inflamed.

Symptoms of Kawasaki disease

· The majority of children with Kawasaki disease are taken to the doctor by a picture of prolonged fever. Children tend to be more irritable from what would be expected for the level of fever presenting. Fever appears abruptly, although they can exist some mild symptoms the days prior, such as irritability, vomiting, diarrhea, decreased intake, cough, runny nose, weakness, abdominal pain, and joint pain.

Phases of Kawasaki disease

· The evolution of the disease follows four stages:
Acute phase
· Begins suddenly with fever above 39 - 40 ° C, which can last several weeks and that does not respond to antibiotics or antipyretics. With adequate treatment, such as aspirin at high doses or intravenous immunoglobulins (antibodies that are administered to reduce the immune response of the patient), the fever would refer in less than 48 hours.
· In addition to fever, in this phase there may be other symptoms and signs such as irritability, bilateral conjunctivitis (with red eyes), redness and swelling of hands and feet, redness around the anus, red tongue with appearance of Strawberry by the prominence of the taste buds, disorders of internal organs such as liver, kidney or intestine, inflammation of the heart muscle (myocarditis) or inflammation of the membrane surrounding the heart (pericarditis).
· In 75% of cases there is an increase of the lymph nodes in the neck that are felt as nodules of approximately 1.5 cm in diameter. Symptoms in the skin and the lymph nodes are very evident in the acute phase, but may persist throughout stages.
Subacute phase
· It is a phase that begins when it descends the fever and can last several weeks. The characteristic signs of this phase are scaling that occurs in the skin around the fingers and the significant increase in cells that exist in the blood that facilitate coagulation which are called platelets.
· In addition, this phase develop aneurysms (such as small bags) in inflamed coronary arteries. The risk of sudden death in this phase is high as they can form clots from blocking the coronary arteries leading to myocardial infarction. The formation of thrombi in this phase is facilitated by the presence of coronary artery aneurysms and the existence of high numbers of platelets, which encourage clotting.
Phase of convalescence
· At this stage they are disappearing all the symptoms of the disease, usually until three months have passed from the beginning of the picture. The alterations seen in blood tests are also normalized.
· However, although smaller aneurysms of the coronary arteries may disappear, there is a risk that grow larger aneurysms. These aneurysms can break or thrombi can form inside. Both complications cause obstruction of the coronary arteries and lead to a myocardial infarction.
Chronic phase
· This phase is only important in those patients who have had cardiac complications, as they are complications they can last a lifetime. In the coronary aneurysms persist into adulthood and in some cases might break with serious consequences.

Diagnosis of Kawasaki disease

Specific tests for the diagnosis of Kawasaki disease is currently not available, and uses criteria based on which the affected present the greater part of the signs associated with this disease, but tests are performed to differentiate the pathology of others that have similar symptoms.

Clinical criteria for diagnosis of Kawasaki disease

More than five-day fever more four of the following five main criteria, without other cause that explains the disease:
  • Bilateral conjunctival injection.
  • Changes in lips and oral cavity.
  • Changes in the extremities.
  • Skin rash.
  • Cervical Lymphadenopathy.

Complementary examinations

  • Blood count: increased white blood cells (Leukocytosis) with immature forms (hockey sticks), increase in the number of platelets (thrombocytosis), moderate anemia.
  • Erythrocyte sedimentation rate (ESR) speed: accelerated.
  • Increase in C-reactive protein (CRP).
  • Urine test: presence of abundant white blood cells without bacteria (sterile pyuria).
  • Liver enzymes (GOT, GPT, GGT) high.
  • Reduction of sodium in the blood (hyponatremia).
  • Microbiological cultures in blood (blood), pharyngeal (throat), cerebrospinal fluid, bone marrow, feces (stool) and urine (urine) negative.
  • Cerebrospinal fluid cytology: increase in the presence of cells (pleocytosis).
  • Electrocardiogram (ECG): must be performed to observe the existence of changes in heart rhythm (arrhythmias), either to rule out ischemic myocardial (lack of irrigation in the heart), with alterations in the conduction of the electrical currents from the heart.
  • Echocardiogram: must evaluate the coronary arteries, and pericardial effusions can be observed (fluid around the heart), myocarditis, endocarditis.
  • Coronary angiography: study of imaging with contrast for angiography to assess the presence of aneurysms of the coronary arteries.

Differential diagnosis

This disease can be confused with other diseases, both infectious and non-infectious, and it is important that the clinician has clear diagnosis of this pathology in order to differentiate it from measles, Scarlet fever, toxic shock syndrome, Stevens-Johnson Syndrome, polyarteritis nodosa, syndrome of Reiter, leptospirosis, adenovirus, or drug intoxication, among others.

Treatment of Kawasaki disease

These are the key points in the treatment of Kawasaki disease:
  • Complete rest in bed and hospital admission.
  • Aspirin (acetylsalicylic acid): to reduce the fever. The aspirin acts as antiplatelet platelet, thus reducing the risk of thrombus formation, and also acts as an anti-inflammatory. The use of aspirin is maintained even when the patient has been discharged and is in his house, to last two or three months, or when the laboratory parameters return to normal.
  • Immunoglobulins (IVIG): antibodies that are administered intravenously in a single dose to decrease the inflammatory response of the immune system against the blood vessels.
  • Immunosuppressants like corticosteroids and Cyclosporine, will be considered in those patients that do not properly respond to the treatment described above.
  • Coronary diseases: if they occur, may be necessary interventions of the acute myocardial infarction as revascularization, the use of fibrinolytic with streptokinase, Angioplasty with stent therapy, or even the need for a heart transplant if the patient falls in heart failure.
If the acute phase of the disease is effectively is accomplished by reducing the rate of heart disease to less than five percent.

Prognosis and complications of Kawasaki disease

Kawasaki disease is acute and self-limited; If it is at an early stage the prognosis is good, and within eight to ten weeks remission can be complete.
But if there is coronary involvement the prognosis may be unfavorable. These patients may develop thrombosis of the coronary arteries, aneurysms, stenosis, or narrowing in the post-aneurismas areas.
Other cardiovascular complications include fibrosis of the heart muscle, dysfunction of the heart valves, heart failure, arrhythmia, etc.
Regular monitoring of these patients after the acute phase of disease is essential, and should be performed by a multidisciplinary team that includes pediatricians, cardiologists, radiologists, haematologists and immunologists, among others. The patient's risk level is set by the degree of coronary and cardiovascular illness in general

What is Huntington's disease?

Known as Huntington's disease (HD) a type of movement disorder that stems from a problem in an area of the brain called the basal ganglia; in particular, in the area known as the caudate. Neurons that govern this part of the brain begin to destroy your own programmed genetically; i.e., our own inheritance dictates that these neurons must be destroyed. This causes a decrease in the levels of the neurotransmitter acetylcholine, which contributes to worsening symptoms and favors the onset of dementia in advanced stages of Huntington's disease.
Along with the cerebellum, basal ganglia are the most important structures of our nervous system in movement control. When this area neurons degenerate, the motion control functions are unregulated, resulting in one of the main symptoms of Huntington's disease: the Chorea, or uncontrolled movements and which resemble a dance (dancers), because the involuntary movements are no longer inhibited.
The condition usually starts in the middle ages of life. In later stages, this degeneration begins to become more extensive, affecting other areas; and finally appear dementia.

Causes of the Huntington

The Huntington's disease (HD) is developed on the basis of an genetic alteration. One of our chromosomes, in particular chromosome number 4, suffers a mutation in its short arm. Not to be a chromosome of sexual content, both men and women can develop HD, on the basis of genetic inheritance they received from their parents.
To be a dominant gene, it is only necessary that one parent has in its genetic material one copy of the defective gene descendant that has inherited this gene develop Huntington's disease (if it is recessive, both the father and the mother should carry one copy of the gene to appear the disease, but unfortunately this is not the case). Anyone who has inherited a defective gene, will end up developing disease if they live long enough.
So the only hope is that, two copies of each gene with which each parent may provide to the descendants, copy that inherits is the sound and not the faulty.
Sometimes it may happen that a person who does not have a family history of Huntington's disease develop disease. It's spontaneous cases, in which the gene suffers a sporadic mutation, which leads to the onset of symptoms.

Symptoms of Huntington's

During the early stages of the disease, involuntary movements may appear mixed with the intentional; Therefore, it is easy to pass unnoticed in these moments. As a general rule, the effects progress faster the younger is the patient. Thus, a person who begins to have symptoms at 30 years of age will suffer a disease progression more quickly than if the patient begins to develop symptoms at age 50.
Gradually, movements are becoming ever more apparent, until you carry out everyday actions like swallowing, dressing, bathing... become almost impossible.
The main symptoms are movements that involve, but are not the only ones. One of the most frequent, especially in the early stages, are changes in character. The person is more irritable, aggressive, apathetic, or even depressed.
The also affect cognitive abilities: memory, concentration, reasoning... can be decreased. As Huntington's disease progresses, they begin to observe symptoms of dementia, to decrease the neurotransmitter acetylcholine, which is in charge of the connections between neurons to function perfectly.

Diagnosis of the Huntington

The fact of the discovery of the gene containing the mutation that allows the development of Huntington's disease gave way to a diagnostic test in which, looking for the number of times it is repeated that gene in our genetic code (repeats) we can know if we are at risk of developing the disease. It is known as pre-symptomatic Test (TP), so called because it allows to know if the person is likely to develop Huntington's disease on the basis of the family genetic heritage.
Reached a consensus on the number of repetitions that you must have to know the risk that's suffering Huntington's disease. Like this:
  • Less than 28 repetitions: is very unlikely to develop.
  • 29-34: it is very unlikely to develop, but the offspring will be at risk of developing it.
  • Of 35 to 39: many patients develop the disease; and the next generation will be at risk.
  • 40: is very likely that the person develops symptoms of HD.
There are other tests that can be used. The computerized axial tomography (TAC) can get sharp images of the brain and show that the basal ganglia (in particular, caudate and putamen) are decreased in size. The ventricles may be increased in size. These data are not exclusive of Huntington's disease, since other cerebral pathologies also share these characteristics; But yes may indicate the path to follow for the diagnosis.
The family history is also highly important. The neurologist will perform a series of questions aimed to know the family history in relation to the possibility that a parent may have been carrying the gene for Huntington's disease, or have suffered the disease without being diagnosed as such.

Where to go to perform pre-symptomatic testing?

Anyone with a family history of Huntington's disease can take the decision to carry out the test, and thus know the risk which has developed symptoms. To do so, by contacting with the Korea Association of Huntington Spanish (, or its regional offices, will indicate where to go to perform the test.
The test itself includes several stages: a neurological test, where the doctor trying to find out if the symptoms have already begun; a blood test that is sent to a Genetics laboratory to evaluate the appearance of the defective gene and count the repetitions of the same (what is known as genetic counselling); and an advice from a social worker before, during, and after the results.

Treatment of Huntington's

Huntington's disease has no cure, but many medications can be used to decrease the severity of symptoms and to try, to the extent possible, facilitate the life of the patient and caregivers.
Some of these medications used for the treatment of Huntington's are primarily dopamine, such as antipsychotics (haloperidol or chlorpromazine) antagonists, since the decrease of acetylcholine-producing neurons causes this neurotransmitter level is reduced and increase the effect (which not levels) of dopamine, and thus increase the involuntary movements. These drugs help to the control of the emotional, such as aggressiveness, hallucinations... but not control movements. Indeed, some may even worsen with time, due to a phenomenon of hypersensitivity. They are used to lower doses of which are usually used in psychoses, to try not to engage in sleepiness or catalepsy; but because of the progressive nature of the disease, you will notice a gradual loss of efficiency.
The antidepressants are useful to treat depression; and lithium can help to control variations in mood.
The neurologist is physician responsible for initiating treatment, choosing the drug best suited in each case, taking into account the particular characteristics of each patient, and considering the adverse effects.
Always order information to your doctor or pharmacist if you have any questions about your treatment or any possible adverse effects.

Care of the patient with Huntington

The care that requires a patient of Huntington's disease are complicated. The usual work as dressing, put on, eat, take a shower... can become real problems.
Speech may be affected, making very difficult that the patient can express what he thinks. It is advisable to talk to the patient, so don't feel isolated from the environment that surrounds it, and let him understand that he has understood what you mean.
Footwear must be easy to put and remove, and fasten the foot properly.
The diet should be balanced, with five meals a day; many patients may need one intake greater than normal food, due to wear and tear involved in continuous motion. And however, it is possible to observe that no catch weight.
There are many associations and organizations struggling to advance in the knowledge of this disease. Investigations are complicated and it makes the progress slow. In Spain, Huntington's disease is still fairly unknown, but several Spanish hospitals genetics services have opened various lines of research in the field of the Huntington in order to advance their knowledge and treatment.

What is Wilson's disease

Wilson's disease is by definition a hereditary disease that is characterized by an alteration in the transport and disposal of copper which comes from the diet, which brings as a consequence in the long term the deposit of this metal in three bodies mainly: the liver, the brain and the cornea of the eye, with consequential faults in them.
Wilson's disease is considered a rare disease, its frequency in almost all populations studied is one per 40,000 inhabitants. People carrying the mutation frequency - but in which no disease appears not to be a dominant mutation - it is close to 1%.

What happens with copper metabolism?

It is estimated there about 50-100 mg of copper that are necessary to carry out different functions of metabolism in the body. And through the food we eat every day about 2-5 mg of this trace element.
In patients with Wilson's disease, the intermediary metabolism of copper is altered due to a mutation in the ATP7Bgene. This gene encodes a protein, called in the same way, which is required for the removal of copper in the bile and that copper passing to ceruloplasmin, which is the protein that transports copper in the blood. In the absence of a correct disposal of copper through the bile, there is a tendency to excessive accumulation of this metal, which cause injury liver that can start even from the three years of life.
With the progression of the disease, the concentration in the serum of unbound to protein copper - also called free copper - produces this metal deposit in other locations of the human body, mainly in the Central nervous system, which brings with it level of neurological and psychiatric disorders symptoms.
On the other hand, ceruloplasmin, a protein synthesized in the liver responsible for transporting the 95% copper in the body, is decreased by a defective incorporation of copper to the protein. This fact can help to diagnosis, because measurable levels of ceruloplasmin in blood and, in case of disease, these levels are abnormally low.

How is it inherited?

Wilson's disease is inherited in a manner autosomal recessive, i.e., to make it appear disease should inherit the mutation in the gene, ATP7B both the father and the mother. People who inherit the mutation from one parent but not the other are carriers of the mutation, but do not develop the disease.
In the ATP7B gene mutation is not always the same, they have been described in the medical literature more than 350 possible mutations in this gene.

How and when Wilson disease manifested?

Wilson's disease mainly affects the liver, being one of its earliest manifestations of this organ inflammation, what is known in medical terms as hepatitis. When this happens there is a release into the blood stream and liver enzymes, known as transaminases, bilirubin, substance responsible for the yellowish colour that takes the skin and mucous membranes of these patients (jaundice). Hepatitis tends to heal on their own, but it can be repeated several times and the patient can eventually develop a chronic inflammatory process of the liver, causing normal tissue is destroyed and is replaced by fibrous tissue, causing what is known as cirrhosis of the liver. When this happens the liver is unable to function properly.
The other type of clinical manifestation of Wilson's disease occurs at the neuro-psychiatric level, and is characterized by alterations of movement, tremors and lack of coordination, difficulty in speech and trouble swallowing food. Also loss of memory, decline of intellectual performance, headaches, behavior disorders, neurotic or psychotic manifestations, symptoms of dementia and seizures can occur.
The eyeball involvement is also very common. The most affected by inappropriate copper deposit is the cornea, in its most outer diameter, resulting in a phenomenon known as Kayser-Fleischer rings. This ring is produced by copper deposit initially at the top and bottom poles after surrounding the iris and the cornea. This ring can be detected in an ophthalmologic examination, which can help the diagnosis of Wilson's disease. On the other hand can lead to hardening of the lens and increasing the opacity of the same, referred to as falls.

Diagnosis of Wilson's disease

Paramount to be able to diagnose Wilson's disease is clinical suspicion, based on the signs and symptoms of the patient and the changes in liver function tests. At a clinical suspicion, you can perform the following tests:
  • Quantification of copper in the urine in 24 hours. Values higher than 100 micrograms day are common in these patients (the values for a healthy person ranged from 20 to 50 micrograms/day).
  • Free in serum copper levels. In Wilson's disease are over the age of 25 microgram/dl.
  • Ceruloplasmin in serum levels. They are handicapped in this disease, usually below 20 mg/dl.
  • Presence of Kayser-Fleischer rings in the eye. This alteration is usually detected by an ophthalmologist using a special light called slit-lamp.
  • Genetic Test to detect the DNA of the gene mutation patient, for which used genetic sequencing techniques. Screening of first-degree relatives under 40 years of age is also important.
  • Imaging studies: if the patient is having symptoms neuro-psychiatric usually request an MRI (magnetic resonance imaging) of the brain, thus allowing to detect deposits of copper and cerebral atrophy.
  • If it is necessary to make a differential diagnosis with other liver diseases that are with the same symptoms, it is advisable to perform a liver biopsy to determine the concentration of hepatic copper. Biopsy diffuse inflammatory changes, fibrosis, deposits are found in fat and copper. In addition to diagnose the disease, the biopsy allows to determine the degree of involvement of the liver by copper deposit.

Treatment of Wilson's disease

· Wilson's disease does not cure permanently, treatments can only be applied for by life aimed to control the deposit of copper in the body.
· To do this, firstly should be recommended to the patient make changes in their eating habits and avoid those that are especially rich in copper, such as products derived from cocoa, products of animal origin as viscera, some vegetables and vegetables such as broccoli, seafood in general or nuts such as walnuts, hazelnuts, almonds, peanuts.
· Secondly, from the point of view of therapeutic medicines available currently are aimed to reduce deposits of copper, through a chemical process called Chelation, i.e. drugs bind copper irreversibly and facilitate their elimination via kidney or bowel. The most common are penicillamine (increasingly obsolete by their adverse neurological level), Trientine, and zinc acetate.
· The latest recommendations point to start the treatment with zinc acetate as soon as possible, even in patients with homozygous for the mutation that still have not shown symptoms. Zinc acetate, moreover, is the treatment of choice in pregnant women and in children.
· Thirdly, if the patient requires it, i.e. If he has liver failure, liver transplantation may be performed.

What's new in Wilson's disease?

· Since the discovery of the human genome major advances have occurred in the knowledge of the disease. The application of the genetic test to detect healthy carriers in heterozygosity (carriers of the mutation but only one parent) could prevent the birth of children affected with this disease through genetic counselling to make informed decisions, preimplantation genetic diagnosis (selection of embryos healthy before being implanted into the womb) and prenatal diagnosis (diagnosis of fetus already within the womb).

What is Scleroderma

Scleroderma, Word that derives from the Greek adjective sklērodermos, which means 'of hard skin', is an autoimmune disease that is characterized by the thickening and hardening of the skin. This change may be limited, especially affecting hands and the closest to them part of the forearms, feet, face and neck, with a slow progression over the years; or may be diffuse, spreading to the trunk, progressing, in general, more quickly in the first three years and then parked it.
The thickening and hardening makes losing wrinkles, skin folds and the expression of the face. These changes in themselves do not produce pain, but alterations companions or precedents to these changes in the circulation of the blood in the fingers can produce pain and ulcers on the skin.
Scleroderma has an incidence of 4 to 12 new cases per million inhabitants per year, and is three to four times more frequent in women than in men, occurs in all races and is universal. The disease often starts at age 40.

Types of Scleroderma

Scleroderma includes several clinical forms ranging from localized disease, with involvement of the skin, until systemic sclerosis, widespread disease that affects not only the skin, but also to various internal organs, as the digestive tract, kidney, heart and lung. Thus, we can say that the clinical forms of scleroderma are:
  • Preesclerodermia: there is Raynaud's phenomenon (you can find an explanation of what this phenomenon in the section signs and symptoms of Scleroderma), there are alterations capilaroscopicas (study of capillaries), antinuclear antibodies are positive and there is ischemic lesions in the fingers.
  • Limited: there are several years of evolution Raynaud's phenomenon, there is a skin condition that is limited to the hands and the face or forearms, or both. In addition the visceral involvement appears late, there are anticentromere antibodies (in approximately 75% of patients) and in the laroscopy large capillaries and dilated capillary loops are observed, but there is no hair loss.
  • Diffuse form: exist recent emergence Raynaud's phenomenon, there is a skin condition of the trunk and extremities, there are early condition of internal organs, some patients (30%) have anti-Scl70 antibodies and in the laroscopy loss of capillaries and dilated loops are observed.
  • Scleroderma sine Scleroderma: there may be or not Raynaud's phenomenon, there is no involvement of the skin and other viscera (lung, heart, kidney, gastrointestinal tract) and antinuclear antibodies are positive.

Prognosis for Scleroderma

The prognosis for Scleroderma depends primarily on whether the disease is only skin, limited or diffuse. Diffuse forms of the disease present with pulmonary, cardiac and renal involvement, which often accompany a worse prognosis.
In the majority of patients Scleroderma evolves slowly and survive for many years after diagnosis. Only a few develop a disease that quickly advance to a general deterioration and death.

Causes and risk factors of Scleroderma

The exact cause of scleroderma, is not known although it is considered that there are three elements that influence in its origin and development:
  • A disorder of the synthesis of collagen that causes fibrosis.
  • Certain disorders of the blood vessels.
  • Certain immunological abnormalities.
The most accepted idea about generation of disease is that an altered immune activity, which would consist of an increased production of antibodies and a type of lymphocyte, T-lymphocytes, against a specific antigen. This would lead to a vascular disorder that would be the first step and also the cause of fibrosis.
In addition, there are some cases in which Yes has established a relationship between the contact with certain substances, and the appearance of similar to Scleroderma clinical pictures:
  • Polyvinyl chloride: handling during polymerization.
  • Silica: Scleroderma is 25 times more common in miners exposed to it.
  • Silicone: breast prostheses.
  • ( Treatment with bleomycin: chemotherapy drug) or pentazocine (opioid drug).
  • Certain organic solvents: trichloroethylene and aromatic hydrocarbons.
  • -Toxic oil: the toxic oil syndrome or syndrome of rape was a mass poisoning happened in Spain in 1981, caused by the ingestion of rapeseed oil denatured.

Prevention of Scleroderma

Apart from the clinical pictures induced by chemical substances, at the moment there is no prevention of scleroderma. These cases, due to contact with substances that carry this risk, would be prevented if avoiding such contact.

Signs and symptoms of Scleroderma

In some cases the Scleroderma begins with widespread pain, fatigue, loss of weight and stiffness. In others it starts with symptoms caused by the condition of the viscera, even without alterations in the skin. But the most common Scleroderma is that the affected person present during a variable number of years a progressive skin tightening, especially of the hands (sclerodactyly), accompanied by Raynaud's phenomenon.
The mean age at onset of Scleroderma is 40 years. As we said, the most characteristic clinical manifestation is the involvement of the skin, with three phases: first tend to inflate the fingers of the hands, which adopt a form of sausage, in a second phase hardens the skin - is not pinching skin folds and wrinkles disappear, there is little mobility in fingers, the face has no expression and the mouth opening is less - and Finally, skin thinning occurs.

Raynaud's phenomenon

The most frequent in Scleroderma initial manifestation is the Raynaud's phenomenon - occurs in 90% of cases, which usually persist throughout the disease. It is so characteristic that their absence makes it unlikely the diagnosis of scleroderma. Raynaud's phenomenon - can appear in different diseases, not only in the Scleroderma — is a disorder that is characterized by the reduction or lack of blood supply (ischemia) in the fingers, episodic way. Manifested by certain changes in the coloration of the fingers of the hands and feet: pallor, followed by bluish discoloration of the skin (cyanosis) after exposure to cold, and acontinuación redness after heating.
Fingers, after being exposed to the cold, pale represents the ischemic phase of the phenomenon, and is due to the closure of the arteries that carry blood to the fingers. During this phase are dilated small blood vessels (capillaries and venules) and appears blue fingers staining because there are deoxygenated blood in these vessels. Phases of pallor and cyanosis is accompanied by numbness, tingling and feeling of cold. With warming blood circulated rapidly resulting in redness and heat, which patients often experience as intense pain in the fingers. These alterations in the blood supply in the fingers can cause ulcers on the skin.

Involvement of joints

It begins with stiffness and pain, then produced a limitation of mobility, especially in the fingers of the hands.

Condition of the viscera

Within the visceral manifestations, the most common are gastrointestinal, especially affecting the esophagus, but any part of the digestive tract can be altered. Problems of the esophagus are due mostly to loss of its mobility, which alters the advance of food from the mouth to the stomach.
The following visceral change in frequency is the pulmonary condition. Affected patients have difficulty breathing and, in general, to suffer a gradual deterioration in lung function due to fibrosis of the lungs, which is the leading cause of death in these patients.

Heart condition

The involvement of the heart consists, among others, angina-like chest pain and arrhythmias. The disease can affect both the cardiac muscle, as blood vessels, the heart's conduction system.

Kidney condition

When the disease affects the kidney is spoken of nephropathy, which usually occur during the first few years. Some patients also have severe hypertension, precisely, induced nephropathy.

Other manifestations

Other manifestations may occur in Scleroderma as diseases of the endocrine system, disorders of nerves or dry syndrome or Sjogren (disease of autoimmune origin whose essential feature is the lower secretion of Exocrine glands, such as, for example, the sweat producing).

Diagnosis of Scleroderma

Some features of the disease (discoloration of the fingers) Raynaud's phenomenon, sclerodactyly (hardening of the skin of the fingers) and esophageal disorder should consider the diagnosis of Scleroderma.
In addition, the results of some tests such as the detection of some autoantibodies specific to this disease or the alteration of circulation in the capillaries through the Wadi laroscopy (evaluation of Microcirculation under the nail) nail can help to orientate the diagnosis of scleroderma.
In laboratory tests detected unspecified disorders - that is, that can appear in many other diseases, such as: the sedimentation speed, anemia, rheumatoid factor positive or the increase of immunoglobulins.
It is oriented more in the diagnosis of the esclerdodermia the study of antinuclear antibodies, but they are also indicative of other systemic diseases. These autoantibodies are very frequent in Scleroderma, are detected in 90% of patients and the most common pattern is mottled, although the nucleolar pattern is the more specific disease. These patterns are observed using a fluorescence microscopy, the type. Other autoantibodies as the anticentromere, the anti-Scl70 or antinucleolo can be detected.

Treatment of Scleroderma

As a general measure for the treatment of Scleroderma is often used D-penicillamine, a drug that is capable of interfering with the synthesis of collagen in the early stages of the disease, a dose of 125 grams on alternate days. In this phase also used low-dose glucocorticoids to treat swelling (edema), since high doses can trigger a renal crisis.
For the treatment of Raynaud's phenomenon is recommended to avoid the cold and given the (nifedipine and diltiazem) calcium channel blocking drugs; drugs such as prostacyclin, the bosentan or the antiplatelet agents (e.g., acetylsalicylic acid) can be used in cases of ulcers on the fingers. The use of moisturizing creams for the skin is also recommended.
In patients with esophageal symptoms (such as omeprazole) Proton pump inhibitor drugs are administered. In cases of overgrowth of intestinal bacteria is usually given some kind of antibiotic. The stiffness and pain in the joints are treated with nonsteroidal anti-inflammatory drugs (e.g., ibuprofen).
The Interstitial Pulmonary condition is treated with oxygen therapy, bronchodilators, antibiotics and cyclophosphamide and glucocorticoids in the early stages (alveolitis). In cases with pulmonary hypertension, vasodilators (e.g. nifedipine), prostacyclin and bosentan, among other treatments are used.
The heart condition is treated depending on the manifestations that arise. The fámacos for the treatment of high blood pressure are ACE Inhibitors (angiotensin, as for example the enalapril-converting enzyme inhibitors).

What is sclerosis (ALS) amyotrophic lateral and causes

Lateral sclerosis (als) Amyotrophic is a degenerative disease that affects motor neurons, which are responsible for controlling the movement of voluntary muscles.
Of all diseases of this kind, als is the most frequent, their approximate incidence is three of every 100,000 people per year, and affects more males, with a mean age of onset of the disease about 56 years. Only in Spain it is estimated that about 2,500 people are affected.
There are two forms: a family of hereditary (in 10% of cases) origin; and a sporadic, which is the usual form of appearance (in 90% of cases), and occurs randomly, and no cause apparent.
Causes of amyotrophic lateral sclerosis
The exact cause of the disease is unknown, although it has blamed on multiple factors such as aging, viral infection, and poisoning by heavy metals (such as mercury, cadmium, lead and thallium). Only between 5% and 10% of ALS cases seems to be due to hereditary causes.
There are two hypothesis, that still does not have been demonstrated, but it should be noted as potential causes:
  • Some kind of nerve growth factor deficiency.
  • Excess of a neurotransmitter called glutamate, on the outside of the cells of the nervous system.

Symptoms of ALS

· The lateral sclerosis (ALS) Amyotrophic usually begin to manifest itself from the 50-55 years in the sporadic forms, or to the family forms 11. There is a progressive muscle weakness (which usually begin in a hand or an arm), accompanied by loss of coordination, which makes it difficult to do so common activities such as swallow, climbing stairs or lifting. Among other symptoms, ALS patient may also have muscle cramps - especially after having done some exercise - and speech disorders.
· As the disease progresses, be involved more muscle groups; There is an affectation of the musculature distal extremities (hands and feet), with twitches, exaltation of reflexes and spasms. Fasciculations are brief and involuntary contractions of a muscle, which can be seen under the skin and do not produce any movement.
· ALS tends to move towards a complete paralysis. But unlike other neurological diseases, in the case of ALS have not been disorders of sensation, involvement of sphincters, or loss of intellectual ability or sexual function. The disease nor affects the muscles of the eyes, so the capacity is preserved until the end to make eye movements.

Diagnosis of ALS

· To clarify a diagnosis of ALS, the doctor will draw up a complete medical history, so the patient shall respond to an interrogation about his surgical background and family illnesses, and explain how is at the present time, providing information such as: when started the muscle weakness, which now feels worse, if there are some symptoms such as fever, cough , changes in the bowel, etc.
· The doctor will also perform a physical examination of the patient, assessing strength and endurance, and checking your reflexes and the possible existence of tremors and muscle spasms, twitching, or decrease in muscle tissue. Be observed, in addition, if the respiratory muscles are affected. Spirometry can provide information about the patient's respiratory status.
· The diagnostic test that will confirm the presence of amyotrophic lateral sclerosis is the electromyogram, which will determine the neurological involvement of muscles, and will demonstrate the loss of motor neurons. The test involves placing electrodes into a muscle and, using a computer, record the electrical activity of each muscle fiber.
· The realization of a cranial magnetic nuclear (NMR) resonance will show the existence of cerebral atrophy and changes in the central nervous impulse conduction. This test is contraindicated in patients with pacemakers or metal surgical prosthesis.
· Other diseases presenting a similar clinic; should be disposed in this way, prevent unnecessarily scare the patient and their families.

Treatment and prognosis of ALS

Amyotrophic lateral sclerosis is a disease with a poor prognosis, so it must be informed the patient of his situation with tact and detail. Currently it is not possible to cure ALS, and the treatment is aimed primarily at treating the symptoms.
Riluzole It is a drug that acts by blocking to glutamate and is used to delay the progression of the disease and prolong life. Other medications are given to patients to reduce the discomfort of the ELA (cramps, spasms, disorders of sleep) and the physiotherapy and rehabilitation are used to improve muscle function and mobility of patients as far as possible.
To combat respiratory and swallowing difficulty (the muscles involved in these two functions tend to be the first to be affected) guidelines can be followed when the patient having to eat:
  • Remain with the erect trunk and head slightly flexed.
  • Focus on the moment of meals avoiding, to the extent possible, speak.
  • Not take extremely hot or cold foods.
  • Make little abundant meals but more often throughout the day.
  • Chew slowly.
It is also important to educate family members of the patient on the disease being treated. They should learn how to perform the Heimlich maneuver to avoid possible choking.
This maneuver is to sit or stand behind the victim and surround him with both arms. Right hand closed in a fist is situated and placed below the sternum, left gets clamped to the handle. Once prepared, is compressed quickly and forcefully the victim's abdomen, from below upward. This maneuver should be repeated several times, until it comes out with force the object that had obstructed the airway.
It is recommended to intervention from a nutritionist, because patients with ALS usually lose weight due to the difficulties that have to swallow. In some cases, it may be necessary to place a tube in the stomach of the patient (Gastrostomy tube) so you can feed your needs without having to swallow the food.
The respiratory muscles is affected in almost all the patients of ALS, causing difficulty and even respiratory arrest. To control the respiratory function of the patient spirometry should be time. When it is committed will be necessary to resort to physiotherapy, hygiene of the Airways (to avoid possible pneumonia), oxygen therapy and, occasionally, tracheotomy.

Prognosis of ALS

Amyotrophic lateral sclerosis is evolving towards a progressive worsening and the average survival from the development of initial symptoms is located between three and five years, although about 10% of patients get live more than ten years. The English scientist constitutes an exceptional case, Stephen Hawking, who was diagnosed when he was 21 years of age (over 50 years ago).
Currently there are several lines of research for the development of drugs that can combat or slow down the course of the disease, such as Neurotrophic factors, intravenous immunoglobulins, cyclophosphamide, and the glutamic acid antagonists.
It is possible that, in future, the ELA happens to be a disease with a more favorable prognosis. Ongoing investigations aim to achieve treatment curative or preventive for the disease, as well as attempting to clarify the causes that lead a person to suffer from it.

Help ALS patients

Although als is a disease little frequent in Spain was diagnosed around 900 new cases each year. Currently, the people diagnosed of ALS live longer after diagnosis than it did years ago, thanks to drugs such as Riluzole, which slows down the progression of the disease, but also by the effects of other multidisciplinary treatments, such as physical rehabilitation to improve muscular capacity, gastrostomy, which promotes better nutrition , and ventilation-invasive, which does not require intubation, endotracheal or tracheotomy, so it does not keep intact airway, avoiding risks such as pneumonia.
As in all diseases, early diagnosis and adequate information, enabling the sick and their families choose more favourable to appropriate treatment and lifestyle alternatives, improve the quality of life and long-term expectations.

What is cystic fibrosis?

Cystic fibrosis is a genetic disease that is due to a series of mutations in the gene that encodes a protein called the cystic fibrosis (CFTR) transmembrane conductance regulator. The CFTR is responsible for the regulation of the transport of chlorine through the membrane of exocrine epithelial cells (such as sweat glands). When the CFTR is altered, there is a disorder in the regulation of the channels of the chlorine from the body, which causes a decrease in the secretion of water, which has resulted in an increase in the viscosity of secretions, which are thus more difficult to remove, and produce an obstruction of the ducts of organs that have altered skin cells such as the lung, pancreas, bowel, and sexual glands. The sweat glands are the most affected, which leads to an increase in the content of salt in the sweat. This is what allows to establish the diagnosis of cystic fibrosis.
Cystic fibrosis is hereditary origin disease more prevalent in the race white, and affects one of every 2,000 live births of this breed, while the percentage drops to one of every 17,000 live births of black race. Patients are at risk of having a child ill with 1% (which is much higher than it expected in the rest of the population). There is a 5% of people who have the own disease gene but who, however, are healthy and have not developed the disease.
Years ago the CF was a disease confined to children, due to the short life expectancy of people who were born with the condition. However, the expectation of life of the patients, has increased significantly mainly due to progress in treatments (especially of respiratory infections and nutritional status). There are patients who, probably as a result of an alteration of genes involved, have milder symptoms, so are diagnosed later (at puberty or even in adulthood).

Symptoms of cystic fibrosis

Cystic fibrosis is a disease that affects various organs, mainly the digestive system, the respiratory and the player.

Digestive system

Cystic fibrosis may alter all the digestive organs that have secretory function, that is, they produce a substance such as, for example, the pancreas, affecting the exocrine function (release of hormones involved in digestion process), and less the endocrine (who is involved in the release of insulin).
The intestinal condition can manifest from birth by meconium ileus (intestinal obstruction in this case caused by the increase of viscosity of intestinal secretions). This is due to a decrease of the fluidity of the intestinal contents, by the decrease of the amount of water that contains. In addition, also occurs a reduction in the release of pancreatic enzymes which are responsible for digesting and make more liquid under normal conditions, the meconium (the first bowel movements of the baby) to facilitate their deportation. The clinic, is therefore characterized by pain and increase in abdomen, vomiting, and absence of bowel movements meconiales, during the first days of life (i.e., the child does not deflate in these first days after birth, when it is normal that at 24-48 hours I had already made some / deposition is). Mortality from this intestinal involvement, which was 55%, has fallen to 5% in the past 20 years, thanks to the progress in early surgical treatment.
Equivalent meconium syndrome, or distal obstructive syndrome
This intestinal involvement is due to an increase in the consistency of the intestinal contents, which is usually associated with a slowing of intestinal transit. Its prevalence is very variable, less than 2% in children under 5 years, and between 7% and 12% in patients aged between 5 and 30 years. The clinic is usually based on intense abdominal pain, which appears before the intestinal obstruction (several weeks or months before). It usually occurs also constipation, although in some cases there may be diarrhea.
Acute appendicitis
Mucous material can close the Appendix and cause acute appendicitis.
Pancreatic condition
It is present in 90% of patients (practically all have data of pancreatic insufficiency, but 10% has respected pancreatic function) and manifests clinically with a bug in pancreatic function, whose end result is steatorrhoea (excessive fat in feces, motivated by the alteration in intestinal absorption of fats).
The absorption of carbohydrates, however, hardly is affected, because the deficit of pancreatic amylase (which is one of the enzymes the pancreas excretes poorly) is offset in part by the secretion of salivary amylase (an enzyme with a function similar to the pancreatic amylase, but secreted with saliva). Pancreatic insufficiency is responsible for malnutrition that often suffer from these patients, and can occur in the early stages of the disease, more pronounced form in patients who are diagnosed before having a few more severe symptoms.
Diabetes, which afflicts about 10% of patients, increases its frequency according to the age of patients increases, and the average age of diagnosis of diabetes associated with cystic fibrosis is about 20 years.
Liver and biliary tract
They are also disrupted in this disease. 30% of patients older than 10 years have hepatomegaly (enlargement of the liver), and 10%, alterations of liver function. In adults, has been also observed a high incidence of biliary lithiasis (stones in the gallbladder).

Breathing apparatus

Respiratory symptoms are related to the increase of the viscosity of bronchial secretions and defective mucociliary clearance, causing a chronic infection of the tract and the bronchial obstruction. There is lung injury in the newborn, but evolves throughout the life of the patient to respiratory failure with significant reduction of oxygen, causing them to cause heart disturbances.


Thickening of the tips of the fingers of the hands and feet, with proliferation of bone tissue (bone) and swelling, which is associated with States of lack of oxygen in the tissues.

Reproductive system

Male patients show a decrease in the number of sperm alterations at the level of the genital tract as a result, so many patients are infertile. Women have less alterations in reproductive function than men.

Diagnosis of cystic fibrosis

Cystic fibrosis diagnosis is mainly clinical.
The most striking clinical manifestations are usually respiratory, although steatorrhoea, when it is very intense, or a significant delay in development, can also to suspect the diagnosis. To confirm this, is the sweat test, which is to induce excessive sweating by administering an injection of pilocarpine (a drug) in an area of the skin, where the concentration of chlorine and sodium is determined. To make the test positive in children, the concentration of each must be greater than 60 mEq/L, but in adults should exceed 90 mEq/L. 98% of patients given positive to this test.
Since the early treatment of the symptoms improves the prognosis of the disease, it is recommended to make the diagnosis as soon as possible in the newborn, in those cases in which they appear signs which make suspect the presence of disease, or when there is a family history. In infants is diagnosed by measuring the concentration of a hormone called trypsin, although the ultimate test to confirm the existence of cystic fibrosis is that measuring the concentration of salt in the sweat.

Treatment of cystic fibrosis

The treatment of cystic fibrosis is aimed to fight against the complications of the disease and to improve the quality of life of the patient, because there is a curative treatment even.

Malnutrition and digestive problems

People who suffer from cystic fibrosis absorb fats poorly, which has resulted in a major State of malnutrition, which must be offset by a high calorie diet, whose fat content is somewhat higher than normal, and that provides sufficient protein and vitamins.
To monitor the nutritional status and act according to the needs of the patient, Clinical Biochemistry determinations should be periodically (haemogram, proteins, fats...), and weight, size, perimeter of arm...
Patients who have pancreatic insufficiency must also consume commercial preparations of pancreatic enzymes.
The treatment of meconium ileus consists of surgery.
In the following link you will find more information about nutritional tips for cystic fibrosis.

Breathing apparatus

The purpose of the treatment of respiratory problems is again more fluid secretions, in order to prevent bronchial obstruction, and preventing and treating infections. Also recommend the respiratory physiotherapy, postural measures that facilitate the expulsion of secretions (2-3 daily sessions of 20 minutes before meals) and the intermittent administration of medications such as Bronchodilators (the same people who often use the asthmatic) spray and mucolytics (to facilitate the removal of secretions). Antibiotics are administered to treat the respiratory infection.
If infections are persistent, antibiotic treatment should be continued, but if they are not very frequent treatment shall be limited to the time required in each case. Lung Transplantation for patients with very advanced disease may be indicated.
It is necessary for the patient to ingest salt supplements to deal with losses by sweat, especially in warm times.
Given the chronic and nature, for the moment, incurable disease, it is advisable that patients and their families receive psychological support.

Prognosis of cystic fibrosis

The life expectancy of patients with cystic fibrosis has improved much in recent years, since he spent four years in 1950 to 25 years in 1990. This is mainly due to the early diagnosis, improvements in maintenance of nutritional status and advances in the treatment of respiratory infections.
However, despite the progress made, the most frequent cause of death is often associated to malnutrition resulting malabsorption of fats and nutrients, due to exocrine pancreatic insufficiency, recurrent respiratory infections and lack of appetite.
Other less common causes of death are the meconium ileus, chronic respiratory failure, heart failure, and the alteration of liver function.

What is hemophilia?

Hemophilia is a hereditary disease that consists of a difficulty or inability of the blood to clot. A small wound, which under normal conditions is negligible, for a hemophiliac may constitute a real problem. The pathology is usually characterized by the emergence of internal and external bleeding, as well as other symptoms arising from this situation.
Is considered a rare disease, because it affects a very small percentage of the population: 1 of every 6,000 newborns live in the case of hemophilia A, and 1 of every 30,000 in the Hemophilia B.

Hemophilia: disease of the Kings

The first descriptions found in Jewish writings, of cases that probably correspond to hemophilia, date back to the 2nd century b.c. There were certain regulations which exempted from the ritual of circumcision to those children whose older siblings had suffered big haemorrhages, or died during this procedure. Later appear different stories that recount the strange death by bleeding of, for example, all the brothers of a family.
Speaking of the history of hemophilia is can remember the case of Queen Victoria de Inglaterra (19th century) who, after the birth of their eighth child, discovered that it was a carrier of hemophilia. As it was the custom among the noble classes, there were numerous marriages concluded with members of other Royal families, so that the "germ" of hemophilia was spreading the Royal houses of Europe in this family. So how this disease finally be known in the Western world as "the disease of Kings".

Causes of hemophilia

The causes of hemophilia are absence, deficiency or inadequate creation of certain proteins that are part of the so-called coagulation cascade. When an injury occurs, the body gives the order to mobilize a number of components present in the blood (found in circulation at any time, whether or not wound) that will attend the point injured, forming a wall that prevents the output of blood. This 'wall' (clot) formation happens after the performance of some proteins called clotting factors. The process through which these activate the clotting mechanism called the coagulation cascade, since each of them (12 in total) activates the next. Because of this activation cascade, if one of the factors is not present, or is it poorly, it will be the cause of a failure in the process.
Hemophilia is a hereditary disease; its transmission is linked to chromosome X (sex chromosome), and there exists an equivalent allele on chromosome and.
The defective gene is recessive compared to the normal gene, meaning that whenever a normal copy of the gene is present, the individual carrier will be a healthy individual. It is for this reason that hemophilia is a condition in which women tend to be carriers, only men are those with the disease: in the human chromosomes come in pairs. Thus, in its genome there are two copies of all genes. If one of the copies has an error, is the other to ensure that their functions are carried out correctly. But there is an exception: the sex chromosomes, X and and. Women have two copies of the X chromosome, so if a girl inherited from one parent a chromosome with the defective gene even you will have another copy which will ensure a correct coagulation (there is an extremely low probability that both carry the defective gene). The men, however, only have one chromosome X, if this has the defective gene, the disease appears in 100% of cases.
One can distinguish two types of hemophilia; both are characterized by the same symptoms, but differ in the improper coagulation cascade factor.
  • Hemophilia A: the defect lies in factor VIII. This is the most common type, is that manifests itself in 85% of cases.
  • Hemophilia B: the defect are in factor IX.
There are also different levels of severity depending on the amount of factor that the patient has. There are some individuals who may have some factor, and others however are a total lack.

Symptoms of hemophilia

The main symptom of hemophilia is the emergence of internal and external bleeding, whether spontaneous or provoked. Derived from these hemorrhages will appear other clinical manifestations, which are common to the majority of patients.
It should take into account that any accident than for a healthy person would not be more than slight discomfort, for a haemophiliac can mean a problem more or less serious. Thus, any court, the appearance of a hematoma, etc., should be immediately controlled and treated with appropriate measures.
One of the most common problems of this pathology is the appearance of haematomas or hemophilic arthropathy: deterioration of the joints by repeated haemorrhages. At the point of union of the bone joint there is a membranous coating called synovium. This way the synovial fluid, which helps the movement of bones and prevents the friction between them. The synovial membrane has also multitude of capillaries, which sometimes can break due to small lesions or own natural friction of the joint. In a healthy individual, the rupture of the capillary is quickly repaired by the formation of a clot, but in an individual who suffers from hemophilia, the rupture of capillaries will lead to continuous bleeding, which may result in an inflammatory process accompanied by pain. The person undergoing this process will take an initial feeling of tingling and heat in the joint. To measure articular capsule is filled with blood, inflammation and pain increase, and the ability to move is becoming limited.
With the passage of time and recurrence of these episodes, hemorrhages occur more and more easily, and the blood will begin to accumulate, causing damage to the tissue and causing the membrane to stop producing synovial fluid. Lack of lubrication cause wear of the bones, and the affected joint will become rigid and will lose stability, even more so when muscle that surrounds the articulation go weaken further because of continued inflammation and abnormal movement.
Without proper treatment, this degenerative process can lead to the total loss of function of joint, deformations, and muscular atrophy. This syndrome mainly occurs in the knee, but may also appear on the elbows, ankles, shoulders, hip and other areas of the body. In addition to the joints, there are other parts of the body that are affected most frequently in patients with hemophilia:
  • Eyes.
  • Brain.
  • Throat.
  • Kidneys.
  • Digestive system.
  • Genital tract.
Bleeding in the kidneys and digestive system will manifest itself with the appearance of blood in urine (hematuria) and Lee.

Diagnosis of hemophilia

Diagnosis of hemophilia focuses on the determination of the type of Hemophilia and in their degree of severity. Your doctor should perform a study of the clinical history of the patient, and a blood test in which the levels of other clotting factors will be measured.
Currently there is the possibility of a prenatal diagnosis for hemophilia through the analysis of the amniotic fluid extracted by puncture (amniocentesis).
A newer technique is preimplantation diagnosis. This is based on the analysis of the presence of the mutation in a single cell, allowing you to select the healthy embryo to implant in the womb.

Hemophilia treatment

To be a disease of genetic origin there is no treatment that will result in the definitive disappearance of the hemophilia. Employed therapies are intended to reduce the hemorrhagic tendency of the affected organism.
The hemophilia treatment is relatively easy, simply consists of the contribution of the factor deficient or absent. So are complete transfusions, contribution of fresh plasma frozen or concentrates of recombinant factor concentrates and plasma factors; in general, the drawback of concentrates is its high cost.
The dose of factor to apply (8th or 9th depending on the type of hemophilia A or B) will depend on the age of the patient and the degree of severity of the bleeding episode. Treatments with blood and blood products always carry with them certain drawbacks: first, is the risk of infection by virus or other pathogens from the donor; Therefore there must be a strict control of the samples and, in the case of concentrates, always comes to a treatment of viral inactivation. Another problem that can be found in some individuals is the emergence of an immune response against the managed factor; i.e., that the body of the receiver detects the introduced factor, and take it as a strange substance against which they must fight. In case of this reaction, response will both be higher the greater the amount of defective factor. In these cases it will be to treat the patient with concentrated mixtures of clotting factors or factor VII activated.
Currently we have developed methods by which the patient can apply treatment at home (always prior training by qualified personnel); This is a very important breakthrough, not only in improving the quality of life of the patient, but also in the development of the disease. Home treatment prevents the hospital admission and, therefore, absenteeism from school and work, decreases the number of bleeding joints, and prevents the appearance of recurrent hemarthrosis.
Physical therapy can be used as a preventive measure by the recommendation of appropriate exercises, that maintain the patient in proper physical condition, that facilitates the emergence of musculoskeletal injury prevention. Also can go to these specialists once has appeared the injury; its action will focus on reducing inflammation and pain, and to recover lost function, minimizing the potential fallout.
In recent times is being conducted certain lines of research aimed at treatment using gene therapy, based on the introduction of genes into the patient's cells that provide the necessary information for the correct production of absent or defective factor.

What is lupus?

Systemic lupus erythematosus is a chronic inflammatory autoimmune origin (although the exact cause is still unknown). This means that affected the immune system loses the ability to identify bacteria, viruses, and other external enemies that come into the Agency, and confuses the cells and healthy tissues as invaders, activating a production exaggerated antibodies which act on the patient's own cells (autoantibodies), by which any organ of the human body may be damaged.
Is about a disease that is estimated 40 of every 100,000 people - only in Spain suffered 40,000 people-suffer from it, and that it most often affects women, in a way that in 90% of cases it is women of reproductive age, although they may also suffer from it boys, old men and children. Women of color suffer it three times more than the white race.

Causes and risk factors of lupus

The causes of lupus and the mechanisms by which occurs are unknown, but know that there are a number of factors that, acting on someone genetically predisposed, may develop immune alteration and the symptoms of lupus. Among predisposing factors include elevated levels of estrogens (this explains the high frequency in women), ultraviolet radiation, medications, infectious agents, etc.
The name of the disease, 'lupus', is a doctor who in the 13th century popularized this name, since lesions of the face appearing on the affected reminded him to bites from Wolf ('lupus' in latin).

Symptoms of lupus

The Lupus clinical manifestations are varied, and can appear all kinds of symptoms due to the alteration of various organs. The majority of patients have periods of exacerbation of the disease, which alternate with periods of remission, and it's rare that the disease completely.
Both at the beginning and during the clinical course, lupus can be accompanied by General manifestations in the form of fatigue, fever, weight loss, loss of appetite, and malaise. Let's see in more detail the most common symptoms of lupus :

Musculoskeletal manifestations

They are the most common lupus symptoms. Joint pains are practically in all patients, as well as the nonspecific muscle aches. The emergence of arthritis (inflammation of joints, which tends to be changing location) is also very common. We can see weakness, muscle inflammation, increase in the elasticity of tendons, as well as dislocations, deformities and joint.

Cutaneous manifestations

They are the next in frequency after the muscle-skeletal, in 80% of patients the disease sometime in. Currently the involvement of the skin is divided into three different forms of presentation:
  • Acute injuries: the most characteristic manifestation is a redness of the cheeks and the bridge of the nose, giving rise to an appearance in wings of butterfly. These types of injuries occur in 50% of patients with lupus and usually occur after exposure to the Sun and coinciding with outbreaks of the disease. When injuries to forwards they rarely scarring.
  • Subacute injuries: are reddish lesions, high, annular and scales, which are distributed by areas exposed to the Sun such as neck, neckline, backs of the arms and shoulders. They appear in 10% of patients with lupus and heal without scarring afterwards.
  • Chronic lesions: also called discoid lupus; It appears in 20% of patients with lupus. They are circular lesions with reddish edge, and raised that are located on face, scalp, back of the hands and ears. When they heal they leave a permanent scar, and whether they affect the scalp develop alopecia in the area of the lesion.

Renal manifestations

The disturbance at kidney level causing lupus is nephritis. It appears in 50% of patients and is usually the most serious of all, manifestation since it is that determines the prognosis of these patients. It is usually asymptomatic, so it should be general urine in patients with lupus tests to diagnose it as soon as it appears.

Neurologic manifestations

Occur in 50-60% of cases, and they can be very varied. The most frequent are cognitive disorders, especially memory and reasoning problems. There may also be headache, convulsions, and even psychosis.

Cardiopulmonary manifestations

The most frequent pulmonary manifestation is the Pleurisy or inflammation of the pleura (lining around the lungs), and can produce pleural effusion. Similarly, the most common cardiac manifestation is pericarditis, or inflammation of the pericardium (the tissue that surrounds the heart), although there may also be abnormalities in the heart valves, heart failure, etc.

Hematologic manifestations

The most frequent manifestation of this group is anemia, which occurs in 70% of patients. There may also be a decrease in lymphocytes and platelets, but it tends to be mild and does not just impact.
At the level of clotting, due to certain antibodies, are frequent thrombotic events (formation of thrombi that can clog blood vessels, producing vascular alteration).

Other manifestations

Gastrointestinal manifestations unspecified such as nausea, vomiting, diarrhea, or even acute pancreatitis or ascites (presence of fluid in the abdominal cavity, which produces an increase in the diameter of the abdomen) can have. Also manifestations such as conjunctivitis and, in some cases, there may be increasing the size of the spleen, lymph nodes, increased in size in a generalized way, alterations in the function of the thyroid, etc.

Diagnosis of lupus

The diagnosis of lupus is based on the presence of clinical manifestations listed above. Some laboratory data can help in the diagnosis, such as anemia or the presence of autoantibodies. There are many types, and they may also be present in healthy people, so the presence of these autoantibodies have to accompanied by the clinic to reach the diagnosis.
There is a list with 11 specific clinical manifestations that help the diagnosis of lupus. The presence of four of these 11 demonstrations is needed in order to establish the diagnosis.
Systemic lupus erythematosus diagnostic criteria are as follows:
1. malar Erythema: is the redness of the cheeks and the bridge of the nose in "butterfly wings".
2. eruption discoid: are circular lesions with reddish edge, and raised that are located on face, scalp, back of the hands and ears.
3. photosensitivity: skin rash caused by an overreaction to the sunlight.
4. oral ulcers: that are usually painless.
5. nonerosive arthritis, i.e., inflammation of the joints but that does not erode the bone. The erosion of the bones of the joints occurs in other diseases such as rheumatoid arthritis.
6. Serositis: is an inflammation of the membranes lining the lung (Pleurisy) or the heart (pericarditis).
7. renal disorders: with excretion of protein in the urine or substances that indicate kidney damage.
8. neurologic disorder: such as seizures or psychosis.
9. hematological disorder: with anemia, leukopenia (low white blood cells) or thrombocytopenia (decrease in platelets).
10. immune disorder: with the production of certain autoantibodies for example called anti-DNA, anti SM, or antiphospholipid antibodies.
11. antinuclear antibodies: which is the antibody that appears most frequently in systemic lupus erythematosus, in such a way that if they do not appear it is very rare that the symptoms are for a lupus. However, they aren't lupus antibodies, so it can also appear in other diseases and even in healthy people.

Treatment of lupus

There are currently no drugs with ability to cure lupus, so that the treatment will consist of reducing acute crises and their symptoms.
Treatment must be individualized for each patient, depending on the type and severity of the clinical manifestations; Therefore, before beginning treatment, should make an assessment of the affected organs and disease activity.
Generally it should be recommended avoiding exposure to ultraviolet radiation, as well as drugs and situations that may precipitate a new outbreak, such as oral contraceptives, infections, surgery, etc.

Mild manifestations

In the treatment of the minor such as arthritis, headaches, joint and muscle, fever or fatigue, nonsteroidal anti-inflammatory non-drugs (NSAIDs) are useful. If these are not effective they used corticosteroids in low doses. Hydroxychloroquine, which is also useful for fatigue and arthritis is indicated for Cutaneous manifestations. The topical corticosteroids (applied in the form of ointment) are useful in skin lesions.

Serious manifestations

In the case of neurological, renal disorders, anemia and other serious manifestations, is necessary the use of corticoids at high doses. On many occasions, it is necessary to add to the corticosteroid immunosuppressants such as cyclophosphamide and Cyclosporine.

What's new in the treatment of lupus

In recent years new therapies designed to treat autoimmune diseases have been developed successfully. They are treatment aimed specifically against any part of the immune system and manage to inhibit its function, which leads to a relief of symptoms. They are called biological therapies or targeted therapies.
In the case of lupus, various medications that inhibit some functions of B lymphocytes, which are largely responsible for the symptoms of the disease white blood cells are being used successfully. Recently approved the use of belimumab in patients with a high degree of activity of lupus. Belimumab is an antibody which manages to suppress B cells that cause damage to the body. Encouraging results using rituximab, an antibody designed specifically to a protein on the surface of B cells, have also been observed and which manages to reduce the activity of the disease.
There are other treatments in research such as alentuzimab, epratuzimab and others. Biological therapies in general reserve to patients who have had poor response with the usual therapies or who have obtained only a partial response. They are generally well tolerated but, to suppress the immune system, we must monitor the possible occurrence of infections or tumors.

Prognosis of lupus

Lupus is a chronic disease of variable course where there are from forms that just change survival (less aggressive forms), to forms that develop quickly and endanger the patient's life. The most frequent is presented with an intermittent course, with exacerbations and remissions. It is sometimes difficult to determine if the patient has a reactivation of the disease, sobreañadida disease, or a complication of treatment.
During the past 20 years the survival of lupus patients has been increased in a linear fashion, thanks to early diagnosis and treatments used, so survival is currently exceeding 75% to the ten years of the onset of symptoms.
The factors influencing the prognosis of the disease are kidney function, the presence of anemia and the involvement of the central nervous system. In such a way that causes frequent death are infections, kidney failure and neurological injury.

Special cases of lupus

Drug induced Lupus (seudolupus)

It's a very similar to lupus clinical picture but that is induced by drugs. The clinical manifestations are mostly of predominance of General disorders, joint pains, arthritis, but rarely produce renal or Neurologic involvement. Immune level are also very similar, since autoantibodies are also only found types vary slightly in relation to the of systemic lupus erythematosus.
There are many drugs capable of producing this type of lupus, being the most frequent isoniazid, chlorpromazine, D-penicillamine, quinidine, phenytoin, etc.
This picture is equally frequent in men than in women and as soon as the drug is removed.

Lupus and pregnancy

Fertility is normal in patients with lupus, but they are increased spontaneous abortions, prematurity and fetal deaths, especially in patients who carry a particular type of antibody (anticoagulant).
You should pregnancy occur when the disease is controlled and, if they require corticosteroids, dexamethasone and betamethasone, avoid long life and could pass the fetus. However, if there is no severe renal involvement and the disease is controlled, the majority of the patients complete the pregnancy and give birth to normal children.

Neonatal Lupus

It affects a small percentage of the children born to mothers who have certain antibodies, which passed to the fetus and cause symptoms. Manifestations consist of the appearance of skin, lesions similar to subacute lesions, in areas exposed to the Sun from two months of life, heart (permanent cardiac conduction blockage) and Hematological disturbances.
These antibodies are kept for six months and then disappear, in such a way that the skin lesions also cease to exist.

Autoimmune myasthenia gravis

Myasthenia gravis (MG) is a neuromuscular disease that affects the transmission of the nervous impulse to the muscle. Only affect the voluntary muscles (which we can control), fluctuating muscle weakness and fatigue easily, that increase physical activity and improve with rest.
Described more than 300 years ago, it has been in recent decades when the investigation of this pathology is experiencing great progress. It is considered to be the most studied autoimmune disease and better understood. Do not know what causes it or how to cure it, but great physical, psychological and social impact that causes in people that suffer from it.
Myasthenia gravis is classified as rare disease. Chronic, courses of improvement and worsening outbreaks, it is progressive, crippling and often negligible. No spreads, is not hereditary, not painful and does not affect the sensitivity.
The MG is very heterogeneous, which makes your prognosis and treatment are different depending on the age of the patient, clinical form of the disease, alteration of the thymus, types of antibodies, and time evolution.

Causes and prevalence of myasthenia gravis

We know that myasthenia gravis is caused by autoimmune failure, making that autoantibodies that destroy on the muscular acetylcholine receptor generated. The result is an anomalous and ineffectual muscle contraction which causes muscle weakness and easy voluntary muscles fatigue exclusively, and that increases with physical activity and improves with rest. It seems to be in the thymus gland (between lungs and heart) where the failure occurs because eight out of ten affected have alterations in her (hyperplasia, tumor).
This disease occurs at any age, although it is most common in women between 20 and 40 years old and men from 50-60. In terms of its prevalence, detected 1 to 2 new cases per year per 100,000 inhabitants, and it is estimated that there are between 150-200 cases per million. In Spain there are about 10,000 affected.
Although it is highly variable, more active phase is generally in the first seven years, being in the first two when more progress. There is a genetic predisposition to develop it. Autoimmune diseases are associated with including, myasthenia gravis can do it (5-10%) with: Thyroiditis, rheumatoid arthritis, lupus, Crohn's disease, Pemphigus, and so on.
There is congenital myasthenia (very rare), that although you can share symptoms with the autoimmune MG, is different. It is caused by a genetic disorder and is inherited.

Types and symptoms of myasthenia gravis

There are two groups or types of myasthenia gravis clinically well differentiated, the ocular myasthenia and generalized myasthenia gravis:
Ocular myasthenia
It represents 20% of the MG. seven in ten affected begin presenting ocular symptoms; of them, 80% are evolving to form widespread in 1-3 years. Half of this group are seronegative.
Myasthenia gravis generalised
It represents 80% of the cases. Ocular muscles of the trunk and extremities are affected. Other forms include:
  • Bulbar: affect muscles of the face, palate, speaking and swallowing.
  • Respiratory: (the most severe) respiratory muscle involvement.
  • HIV-negative: 6-12% of patients do not have antibodies against the acetylcholine receptor, but yes is detected him, to 50% of them, antibodies anti-musk, indicating a worse prognosis.
  • Transient Neonatal: 10-20% of newly born mothers miastenicas suffer from MG by the passage of antibodies through the placenta. Cause weak cry, difficulty of suction, muscular flaccidity. It appears in 48-72 hours and can last up to 2-3 months. It is passed.
  • A drug-induced: "penicillamine" (for rheumatoid arthritis) can induce a transient myasthenia.
  • Spontaneous remission: in 20% of cases in its first years of evolution.

Symptoms of myasthenia gravis

Myasthenia gravis symptoms vary intensity in a single day, or a day to another (fluctuation), and their characteristics depend on the affected muscles:
  • Eyepieces: vision (diplopia) double, blurry, sagging eyelids (ptosis).
  • Bulbares: difficulty speaking (dysarthria), swallowing (dysphagia), chewing, loss of expressiveness, vertical smile, hoarseness, nasal voice.
  • Thrust: weakness in neck and spine.
  • Tips: weakness in arms and legs.
  • Respiratorios: difficulty coughing, breathing (myasthenic crisis).

Special situations

  • Crisis myasthenic: respiratory muscles are affected generally by an infection. As a warning, there is usually before bulbar weakness. It is a medical emergency that requires admission to ICU (mechanical ventilation).
  • Gravis and pregnancy: gestation is not contraindicated, but there is a risk of the crisis in the first trimester of pregnancy and during labor and childbirth. One-third of pregnant women are stable, one-third better, and the rest get worse. Not usually recommended breastfeeding.

Psychological aspects of myasthenia gravis

People affected by myasthenia gravis live always based on effort and supporting a great emotional charge.
In many cases, the MG has a difficult diagnosis. Its insidious onset, symptoms similar to other illnesses, and the lack of medical knowledge, have made that those affected have taken long time (sometimes years) to be diagnosed. This has caused them anxiety, anguish, and depression.
We must be prepared to change permanent. We live with uncertainty, because we do not know how long welfare and appears again when the symptoms which we invalidated. We know how the day will be presented and how we feel after a few hours, myasthenia gravis is fickle and fluctuating. With the course of the day we lose vitality by the use of muscles, and we will gradually weaken us. Easy wash, comb, walk, or climb stairs we can be a world.
Family, friends, coworkers, do not perceive that we are sick because the MG is often priceless, invisible in the eyes of others; the weakness can change in hours, from one day to another, which disorients over all.
Socially we can not keep up, we are no longer useful to the work, the family usually does not understand what happens to us. All this is generating anxiety, stress, changes of character, low self-esteem, and incommunicado detention, and we tend to isolate us.

Diagnosis of myasthenia gravis

Myasthenia gravis diagnosis is based on clinical suspicion, confirmed with further tests.
Suspect in clinic
Exploration is observed if there are dual-view, appearance of muscle fatigue after performing a repetitive exercise, fall of eyelids (here "the ice test" is appropriate for two minutes on a drooping eyelid and see its effect), etc.
The edrophonium or tensilon test
It is used in patients with eyelid drop or view double. It is to inject 2 mg of a drug called edrophonium (Tensilon) and check if the symptoms; they disappear in 1 minute the improvement lasts 5 minutes. It is necessary to have "atropine" to neutralize the possible adverse effects of the drug (arrhythmia, hypotension, bradycardia). The sensitivity of the test is 80-90%, but the result may be associated to false negatives and false positives.
Electrophysiological studies
  • Repetitive nerve stimulation: a nerve (6-10 times), check if changes occur in the muscle contraction. In the MG decrease there is > 10%, the fourth stimulus. 75% in the MG widespread sensitivity.
  • Single fiber electromyography: stimulation of two individual muscle fibers. In MG is increasing the time of contraction of the second to the first. This test has a sensitivity of 95%, although it is not specific to myasthenia gravis.
Serological tests
  • Of acetylcholine receptor antibodies: if (+) confirm the MG. are present in 80-90% of the MG generalized and 50% of ocular MG.
  • Antibody anti-Musk: are (+) in 50% of patients with antibodies anti acetylcholine (-).
  • Negative antibodies: not detected any but it suffers from the MG.
  • Other antibodies: "anti-musculo spline", "anti-titina" and "anti-ryanodine".
Other tests to diagnose myasthenia gravis
  • Analyses of blood: to detect the possible presence of associated autoimmune diseases (lupus, thyroiditis, rheumatoid arthritis...).
  • Radiological testing: nuclear magnetic resonance (NMR), TAC... for the differential diagnosis.
Differential diagnosis of myasthenia gravis
There are other diseases that have symptoms similar to myasthenia gravis:
  • Myasthenia gravis eye: thyroid ophthalmopathy, chronic progressive external ophthalmoplegia, myotonic dystrophy pathology of the brain stem.
  • Myasthenia gravis general: Fatigue chronic botulism, congenital myasthenic syndromes, motor neuron disease, obstructive lesions of the oropharynx.

Treatment of myasthenia gravis

The treatment of myasthenia gravis is individualized and depends on the age of the patient, is clinical, severity and rate of progression of the disease. Treatments are used individually or combined, and sometimes induce a remission. There are four basic therapies: the anticolinesterasciso, chronic immunotherapies, fast immunotherapies and thymectomy.


It is symptomatic and is the first line of treatment.
  • Pyridostigmine: the most frequent anticolinesterasico. It prolongs the effect of acetylcholine on the muscle receptor. Its effect starts in 10-15 minutes and maximum two hours. Its excess causes a cholinergic crisis (diarrhea, abdominal cramps, sweating, weakness...).

Chronic immunotherapies

Decrease the amount of antibodies in blood.
  • Glucocorticoids: first line of immune suppression. Use in acute crisis. Effective in 2-3 weeks. In the long run, they have serious side effects.
  • Azathioprine: first line to combine. Weak action, begins in 6-12 months. Adverse effects: Suppression of bone marrow and liver toxicity.
  • Mycophenolate mofetil: little powerful action, begins in 6-12 months. Gastrointestinal effects and suppression of bone marrow.
  • Cyclosporine: Powerful action. Please effect in six months. It requires regular blood checks. Effects: hypertension and renal toxicity.
  • Tacrolimus: powerful action at low doses. Similar to Cyclosporin, but less nephrotoxic. It requires regular blood checks.
  • Rituximab: therapy (novel) monoclonal for myasthenia gravis rebel.
  • Cyclophosphamide: in severe myasthenia that does not respond to other therapies. It has serious side effects.
  • Methotrexate: currently under study.

Fast immunotherapies

Used for myasthenic crisis, control of relapses, and surgical preparation.
  • Plasmapheresis: 5-7 spare parts of the blood plasma in two weeks to remove antibodies. The effect lasts about six weeks. It should be associated with other immunosuppressive treatments. Adverse effects: venous catheter, hemorrhage, hypotension.
  • Intravenous immunoglobulins: are used for five consecutive days for neutralizing antibodies. The effect lasts for two months. Adverse effects: shivering, headache, venous thrombosis, hepatitis or AIDS (very rare).

Surgical treatment of the thymus (thymectomy)

It is required when there is tumor thymic (thymoma) that in 60% of cases, is benign.
It is also recommended in patients under 60 years, in the generalized form of bulbar and respiratory. Not recommended in the eye form. The benefit is greater if it is done in the first three years of evolution of myasthenia gravis. It starts its effect between 1-5 years and maximum about 10 years. (Inactivation of myasthenia gravis) remissions in 65% of patients are reached. It has doubtful effect in patients with anti-musk (+).

Myasthenia gravis prognosis

In the middle of the last century, the classification of Osserman grouped in grades different types of muscular involvement of myasthenia gravis for a better classification, prognosis and treatment. Currently, American myasthenia Foundation reclassified in mild, moderate and severe degree.
  • Grade I. eyepiece. Exclusively ocular involvement. Very disabling and clinically unimportant. It responds poorly to symptomatic treatment with anticholinesterase. Good prognosis.
  • Grade II-a. Widespread. Ocular involvement, trunk, and extremities. Without crisis. Good response to medical and surgical treatment. Good prognosis.
  • Grade II-b. Bulbar. Ocular, bulbar and general involvement. There may be "myasthenic crisis" by disorder of swallowing (aspiration pneumonia). Worst prognosis and good response (slow) to medical and surgical treatment.
  • Grade III. Acute respiratory. General, bulbar and respiratory involvement. Home quick and sharp. Forecast bad, with frequent miastenicas crisis. Medical surgical and inconstant good response.
  • Grade IV. Respiratory tardive. Of long evolution, with little important clinical and that is suddenly complicated with respiratory muscle involvement. Very poor prognosis due to the frequent crises miastenicas. Poor surgical response.
According to the serological study:
  • (+) Acetylcholine receptor antibodies: its determination is disproportionate to the severity of the MG but with the response to medical and surgical treatment, which is usually good. Better prognosis.
  • Antibody anti-Musk (+): more frequent in women. There is bulbar symptoms and respiratory crisis; worse, they respond to symptomatic but best to immunosuppressant treatment. The surgery has an uncertain role. Worse prognosis.
  • Antibodies (-): those affected may have a MG heterogeneous (eye, generalized mild or severe). They tend to respond well to medical and surgical treatment. Irregular prognosis.
  • Other antibodies: striated anti-musculo (+), anti-titina (+) and anti-ryanodine (+): predict myasthenia gravis thymus tumor-related. They are also related to MG of late onset. Worse prognosis.

Tips for living with myasthenia gravis

Usually this disease tends to become stable, and with proper monitoring and treatment, the life expectancy of those affected may be similar to that of the healthy population. Below, we offer some tips to improve your quality of life and learn to live with myasthenia gravis.

Plan activities

Prioritizes, choose most importantly of what you want to do in the day. Learn to listen to your body to know when "push the accelerator and when to release it"), and when you've taken too much effort and learn to retrieve you. Plan the day, know your limits, fractionated activities and prevents overloading yourself.
It conserves energy
Program and alternating periods of rest. It delegates tasks to family members. Avoid insomnia, you need to sleep well (adopt healthy habits that improve sleep). It decreases the stress with relaxation and breathing techniques. Try to be physically active (aerobic exercise), and prevents overweight.
Known / controlled risk factors which can decompensate myasthenia gravis
Medicines (antibiotics, relaxants, anesthetic, antiepileptic drugs, antipsychotics, beta-blockers...). Emotional stress. Excessive exercise. Heat, humidity and extreme cold. Infections. Surgery. Sleep disturbance. Menstruation, pregnancy and menopause. Excessive alcohol. Insect bites. Excessive brightness. Certain foods and beverages (mushrooms, pistachios, Brussels sprouts, tonic, bitter, quinquina wine).
The daily with myasthenia
Change the "how" and "when" do chores. Sit down as you make them. Use the tools comfortable to handle. Avoid domestic accidents, because you have higher risk of injury than the healthy population. Use comfortable shoes. Use patches to correct the double vision (reading, watching television). It carries a bracelet or medical alert sheet indicating that you suffer from myasthenia.
Power for myasthenia gravis
Balanced, easy to chew and swallow food. Eat little and often, weary you less. But if you eat small amounts, make sure that foods are nutritious. Frequently drink while you eat, you swallow better. If you take steroids, it takes food with fewer calories and little salt. Controls diarrhea caused by the anticholinesterase.
Exercise with myasthenia gravis
Recommended. It improves muscle strength, mood, sleep, stress, heart function and osteoporosis. Always do so within your limits, without excesses. Practice gentle aerobic exercise (cycling, swimming, walking). Avoid strenuous and repetitive exercise of the muscles. Does not practise it in hot environments.

Emergency situations

A respiratory crisis can be fatal for a patient with myasthenia gravis, and also at a greater risk of choking. Emergency situations in which you will learn how to act are:
  • Crisis myasthenic: vital urgency. Sharp aggravation of respiratory muscles that causes difficulty breathing. Usually having notified impaired swallowing, coughing, talking. Keep the airway open. It is extracted from the mouth secretions. It helps the patient breathe rising and descending arms. Place the seated patient and supported arms (help to breathe). Try a quiet until the ambulance arrives.
  • Choking: By a foreign body airway obstruction. Heimlich maneuver. Hug the patient back, place right fist into your stomach (between the navel and the breastbone) and grab the handle with your left hand, press suddenly with force and up. If you are unconscious or very obese, is on the ground, placed a hand with the fist closed above the navel, the other hand resting on the first, and press strong and sharply upward, pushing with your weight.

Attitude to myasthenia gravis

The patient with myasthenia gravis should assume nothing will be as before; rethink your life and adapt to the new stage which is going to play live. And, to do so, should understand the disease, assimilate it and familiarize yourself with it.
Get ready to "go constantly changing". Reinvent your life, adapt it to myasthenia gravis and find your space, with realistic goals and short term. Prepare for relapse, they are exhausting and provoke strong mood changes.
Be positive attitude, take on the MG as a challenge, not you're always regretting you and looking for solutions. Take control of your life, risk factors, makes decisions that improve your quality of life, and shows your needs. Keep you motivated. Trust in yourself and your possibilities. Trust in others and allow you to ask for help.
Contact with AMES (Association myasthenia Spain), are there to help you. There are "coping programs" to reduce the psychological consequences, including group, relaxation, coexistence conference workshops, therapy etc.
The family must give time to the patient so that regret what has lost. Be there to listen to you and understand your sentiment, but pity him. Prepare for your changes and unpredictable ups and downs. It is important to have in mind that the symptoms are not always noticeable. You should not minimize their complaints, because it needs to express their desperation. Learn everything you can about the MG and don't be afraid to talk about the disease with him. Learn to recognize when you need help beyond that you can offer you, and encourage you to seek professional support if necessary.
Live with a patient with myasthenia gravis is not easy. Don't ask you to keep the mood when there is little power or that efforts because it may be the limit. You have patience, you not force you to fight a battle also with its surroundings. Provides help in its limited activities and encourage you to realize that allow its symptomatology. Remember that the patient who suffers Gravis all they want is to participate with maximum normal life.

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