The disease of Gaucher is a hereditary disease of lipid metabolism

Hereditary metabolic diseases are often associated with an inborn violation of the synthesis of enzymes. Do not constitute an exception and disease Gaucher.

The disease of Gaucher is a congenital hereditary disease, which is associated with impaired lipid metabolism. As a result of this pathology, accumulation of specific fat deposits in certain bones and organs is observed.

In the human body, there are thousands of all kinds of active substances, called enzymes or, as we are accustomed to hear, enzymes. One of these substances is glucocericibrosidase, as a result of action on a certain type of fats (glucocerebrosides), it promotes the cleavage of their molecules. Gaucher disease is a very rare disease, which is seen only in a few thousand people around the world. In this case, the disease in patients with glucocericidibrosidase is very small. As a result of enzymatic deficiency, Gaucher cells accumulate in the body, in which unsplit fat molecules are collected.

Experts divide Gaucher disease into 3 varieties:

Type 1. It is the most common form of this disease. The main characteristic of this variety, included in hereditary metabolic diseases, is the absence of neuronopathy. In most people, it occurs almost without symptoms. But it is worth noting that some patients may have very serious or even life-threatening symptoms. You also need to know that the nervous system and the brain are not affected.

Type 2. Occurs somewhat less frequently than the first type, but has more severe symptoms that develops in the first year of life and leads to pronounced neurological pathologies (acute neuronopathy), as well as to other symptoms. Most of the patients will not live up to two years.

Type 3. It is also quite rare, but not less often than the second type. It is also characterized by the appearance of neurological symptoms, but they are not as expressed as in the second type of Gaucher disease (chronic neuronopathy). The first symptoms can be noticed even in childhood, but patients can live to the advanced age.

Main symptoms

Gaucher's disease, as mentioned above, leads to the accumulation of Gaucher cells in internal organs, and often in the liver, bone marrow and spleen. This leads to the fact that the organs increase in size, anemia begins, and many other symptoms also appear. The second and third type of disease are characterized by lesions of the nervous system and brain in particular.

The Gaucher disease, the photo of which is presented in this article, is not linked to the sex. Symptomatology can manifest at any age, but it is worth noting that the second and third type are most often found in children. Also, this disease does not depend on race in any way, but according to statistical data, the Jews of Ashkenazi are most often affected by this pathology.

It is worth remembering that this hereditary disease is very dangerous. Therefore, if in your family there were cases of this hereditary enzymopathy, then you need to turn to a specialist who will help to find out if you have this pathology.