Gaucher reaction: causes and methods of treatment

Gaucher reaction is a genetic disease, which is based on the lack of an enzyme involved in metabolic processes at the cellular level. When the disease develops, clusters of pathological cells form in tissues and organs.

A short digression into the history of

Gaucher reaction - what is it? The disease was first discovered in the distant 1882, when the French physician Charles Philip Gaucher described its manifestations in a patient with an enlarged spleen.

In 1924, physicians managed to synthesize a fatty substance containing pathological cells, thereby forming an idea of ​​the main causative agent of the disease.

In 1965, the specialists of the American National Institute of Health proved that the formation of unhealthy cells occurs as a result of hereditary deficiency in the body of the enzyme glucocerebrosidase. The results of successful diagnosis served as the basis for the development of a single method of therapy by the enzyme replacement method. Applying a new approach to treatment did not allow to eliminate the disease completely, but provided an opportunity to significantly weaken its manifestations.

Gaucher reaction: sociology. What it is?

Sociological studies show that the population of 100,000 people accounts for less than 1% of people with pathological heredity, which causes the development of the disease. The specified frequency is slightly increased among the Jewish population - immigrants from the Eastern European region. Therefore, it is commonly believed that the reaction of Gaucher acts as a hereditary disease of the nationality represented. In fact, the pathological manifestation has the same frequency of spread as the same hemophilia and other diseases in which cellular lysosomes are affected.

Types of

Specialists identify several types of diseases:

1. Without neuropathy, the most common type of disease that most people have is asymptomatic. With a strong weakening of the body manifested accelerated growth of pathological tissue. At the same time, unhealthy cells do not affect the nervous system and the brain.
2. With acute neuropathic manifestations - an extremely rare type of disease. Characterized by the emergence of pronounced neurological pathologies in the first years of life. As the statistics show, without adequate timely diagnosis and development of appropriate therapy methods, the lethal outcome occurs at the age of up to two years.
3. With chronic neuropathy - the disease is expressed by the slow progress of pathological manifestations, the presence of neurologic symptoms of a moderate nature. In the late stages of development, the growth of unhealthy cells leads to an increase in internal organs, damage to the respiratory system, the development of dementia. How serious is Gaucher's chronic reaction? Sociology shows that most patients survive to adulthood.

Diagnosis

The detection of pathology requires a comprehensive examination of the body. In particular, the statement of the correct diagnosis requires a visit to a neurologist, pediatrician, a specialist in genetics. Currently, several effective methods are used, the results of which are able to indicate the development of the disease:

1. The blood test is the most accurate diagnostic method, which makes it possible to determine the amount of glucocerebrosidase enzyme in microscopic leukocytes and fibroblasts.
2. DNA analysis - allows to identify genetic cell mutations. The diagnosis in this way is possible with an accuracy of up to 90% at the stage of fetal development in the womb.
3. Bone marrow examination - aimed at identifying pathological changes characteristic of the disease in the tissue structure. Application of the diagnostic approach makes it possible to confirm the disease, but does not allow to determine the location of the cells - carriers of the mutated genes.

Symptoms and manifestations of

As noted earlier, Gaucher's reaction is asymptomatic in the early stages. In this case, the lack of an enzyme glucocerebrosidase does not affect the work of internal organs and does not affect the nervous system.

When the form is started, the disease has an acute, progressive nature. At this stage, the patient feels a general malaise, periodically suffers from abdominal pain, since the growth of pathological cells affects primarily the spleen and liver. These organs increase in volume, and in the absence of proper diagnosis and therapy are often exposed to tissue ruptures.

This is how Gaucher's reaction manifests itself. In sociology such a term does not exist, although the hero of Will Smith from the movie "Focus" claimed the opposite.

Manifestation of symptoms of the disease in childhood often leads to the development of bone pathologies. The child's bones slowly develop, there are delays in the growth and formation of the skeleton.

Gaucher reaction: psychology

One of the main problems faced by people exposed to genetic disease is a state of general malaise. This, in turn, causes a whole mass of psychological problems. People who suffer from this ailment in acute form, feel tired even after a full night's rest.

In children, Gaucher's reaction causes lack of stamina and concentration of attention. For this reason, it is difficult for them to communicate with their peers, play with friends, play sports, focus on learning tasks, and participate in public life.

A change in the appearance may lead to a deterioration in the mental state of the patient. A child can be teased because of insufficient growth, fullness, underdevelopment of muscle mass. People who have experienced acute manifestations of ailment often suffer from inconsistency of external data with desired ideas about themselves. Help to eliminate the above problems can counsel a psychologist.

Possible consequences of

In the absence of treatment, the consequences of the disease usually become:

• profuse hemorrhages in the digestive system;
• damage to liver and spleen tissue;
• spasms of the larynx, until the breath is completely stopped;
• development of respiratory failure, frequent inflammation of the lungs;
• the course of destructive processes in bone tissue, fractures;
• infection of the bone marrow.

Treatment of

More recently, therapy has suggested only the elimination of the main symptoms of the disease. Since the 90s of the last century, as the main method of treatment began to use substitution enzyme therapy, which involves the introduction of a modified element of glucocerebrosidase into the body. An artificial enzyme copies the functions of the natural component in the structure of the blood and replenishes its deficiency in the body. Injections with a substance content can eliminate negative symptoms of the disease, and in some cases stop the formation of pathological cells in general.

To ease the general condition, patients are prescribed analgesics. With the progression of the disease resort to the removal of a part of the liver or spleen. In some cases, bone marrow transplantation can solve the problem.

In conclusion

Gaucher reaction - what is it? Apparently, the pathology is a violation with a rather vague symptomatology. The success of treatment here directly reflects the detection of pathology in the early stages, the prompt start of substitution therapy. A belated reaction to the problem leads to the development of serious complications, and the result of the lack of proper treatment is most often a lethal outcome.