Gaucher's disease is due to the accumulation of lipids in certain organs such as the liver, spleen and bone marrow. This accumulation is due to a disruption of protein synthesis following a genetic mutation. The defective protein is an enzyme, whose faulty action causes an accumulation of glucocerebroside, which prevents the proper functioning of cells involved in host defense, macrophages; the "sick" cells are called Gaucher cells. It is a hereditary disease, transmitted by the parents of the affected individual. It most commonly affects Jewish women, appears in childhood and progresses gradually. Several types are possible depending on the intensity of the damage and symptoms.
Gaucher's disease is characterized by:
- an increase in the size of the liver, called hepatomegaly;
- an increase in the size of the spleen, called splenomegaly;
- an increase in the size of lymph nodes, or lymphadenopathy;
- susceptibility to infections;
- anemia, reduction in the number of red blood cells with its accompanying symptoms: tachycardia, and fatigue;
- thrombocytopenia, decreased platelet count with bleeding tendency;
- bone pain;
- In the most severe cases, neurological disorders with the arresting of psychomotor development in children, abnormal muscle tone, abnormal movements.
Clinical signs do not allow for a certain diagnosis. Additional tests are therefore performed, including blood tests that highlight the lack of blood cells and platelets. One exam in particular helps confirm the diagnosis: the study of the enzymatic activity of glucocerebrosidase, the deficient enzyme.
Treatment can be done by a repeated infusion of the deficient enzyme to correct the problems. Medications can also be used to decrease the amount of accumulated lipids. In addition, a bone marrow transplant may be considered.