The Gaucher reaction is a disease of a genetic nature, which is based on the lack of an enzyme involved in metabolic processes at the cellular level. With the development of the disease, the formation of clusters of pathological cells in tissues and organs occurs.
A brief excursion into history
Gaucher reaction - what is it? The disease was first detected back in 1882, when the French doctor Charles Philippe Gaucher described its manifestations in a patient with an enlarged spleen.
In 1924, doctors managed to synthesize a fatty substance containing pathological cells, thereby forming an idea of the main causative agent of the disease.
In 1965, specialists at 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 a successful diagnosis served as the basis for the development of a single therapy method for enzyme replacement. The application of a new approach to treatment did not completely eliminate the disease, 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 that causes the development of the disease. The indicated frequency was slightly increased among the Jewish population - immigrants from the East European region. Therefore, it is generally accepted that the Gaucher reaction is 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
Specialists distinguish several types of disease:
- Without neuropathy - the most common form of the disease, which in most people is asymptomatic. With a strong weakening of the body, it manifests itself in the accelerated growth of pathological tissue. At the same time, unhealthy cells do not affect the nervous system and brain.
- With acute neuropathic manifestations - an extremely rare type of disease. It is characterized by the appearance of pronounced neurological pathologies in the first years of life. According to statistics, without an adequate timely diagnosis and development of appropriate treatment methods, death occurs before the age of two years.
- With chronic neuropathy - the disease is expressed by the slow progress of pathological manifestations, the presence of neurological symptoms of a moderate nature. In the later stages of development, the growth of unhealthy cells leads to an increase in internal organs, damage to the respiratory system, and the development of dementia. How serious is the chronic Gaucher reaction? Sociology shows that most patients live to adulthood.
Diagnostics
The identification of pathology requires a comprehensive examination of the body. In particular, making the correct diagnosis requires a visit to a neurologist, pediatrician, and a specialist in the field of genetics. Currently, several effective methods are used, the results of which can indicate the development of the disease:
- A blood test is the most accurate diagnostic method, making it possible to determine the amount of the glucocerebrosidase enzyme in microscopic white blood cells and fibroblasts.
- DNA analysis - allows you to identify genetic cellular mutations. Diagnosis by this method is possible with an accuracy of 90% even at the stage of fetal development in the womb.
- The study of bone marrow is aimed at identifying pathological changes characteristic of the disease in the structure of the tissue. The application of the diagnostic approach makes it possible to confirm the disease, but does not allow to determine the location of cells - carriers of mutated genes.
Symptoms and manifestations of the disease
As noted earlier, in the early stages, the Gaucher reaction is asymptomatic. In this case, the lack of the glucocerebrosidase enzyme does not affect the work of internal organs and does not affect the nervous system.
With the advanced form, the disease has an acute, progressive character. 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 subjected to tissue ruptures.
This is how the Gaucher reaction manifests itself. In sociology, this term does not exist, although the hero of Will Smith from the film "Focus" argued the opposite.
The manifestation of symptoms of the disease in childhood often leads to the development of bone pathologies. The bones of the child are slowly developing, there are delays in the growth and formation of the skeleton.
Gaucher Reaction: Psychology
One of the main problems that people who are prone to have a genetic disease is the state of general malaise. This, in turn, causes a host of psychological problems. People who suffer from this ailment in an acute form feel tired even after a good night's rest.
In children, the Gaucher reaction causes a lack of stamina and concentration. For this reason, it is difficult for them to communicate with peers, play with friends, play sports, focus on learning tasks, and participate in public life.
Change in appearance can lead to a deterioration in the mental state of the patient. The child can be teased because of insufficient growth, fullness, underdevelopment of muscle mass. People who have undergone acute manifestations of the disease often suffer from a mismatch of external data with their desired self-image. A consultation of a psychologist can help eliminate the above problems.
Possible consequences
If untreated, the consequences of the disease usually become:
- heavy hemorrhages in the digestive system;
- damage to liver and spleen tissue;
- spasms of the larynx, up to a complete stop of breathing;
- development of respiratory failure, frequent pneumonia;
- the course of destructive processes in bone tissue, fractures;
- bone marrow infection.
Treatment
Not so long ago, therapy assumed only the elimination of the main symptoms of the disease. Since the 90s of the last century, enzyme replacement therapy, which involves the introduction of a modified element of glucocerebrosidase, into the body, has been used as the main treatment method. An artificial enzyme copies the functions of the natural component in the blood structure and makes up for its deficiency in the body. Injections containing the substance can eliminate the negative symptoms of the disease, and in some cases stop the formation of pathological cells as a whole.
To alleviate the general condition, sick people are prescribed analgesics. With the progression of the disease, they resort to the removal of part of the liver or spleen. In some cases, a bone marrow transplant allows to solve the problem.
Finally
Gaucher reaction - what is it? As you can see, the pathology is a violation with fairly vague symptoms. The success of treatment here directly reflects the identification of pathology in the early stages, the early start of replacement therapy. Delayed response to the problem leads to the development of serious complications, and the result of the lack of proper treatment is most often fatal.