What is Gaucher’s disease?
Gaucher disease is a hereditary disease, i.e. a genetically transmitted disease in which fats are stored in unusual cells in the body. As a result, certain organs whose cells are affected are restricted in their function. Patients often show severe fatigue, blood anemia and enlargement of the liver and spleen. In medical terms, Gaucher’s disease is also known as a lysosomal storage disease. The probability of contracting Gaucher’s disease is 25% if both parents are healthy and both inherit the gene.
The causes
Gaucher’s disease affects people in whom both parents have inherited the gene. If this is the case, an enzyme defect occurs in 25% of children. This leads to a storage of fat and sugar in units of the body cells in which this was not intended.
As a result, the affected children suffer damage to the cells and thus also to the organs. The accumulation of too many sugary fatty substances signals to the body that there is a functional disorder in the metabolism. Through this functional disorder, certain messenger substances are now released, which cause an inflammatory reaction.
This initially leads to a restriction in the affected organs. Over time, the organs are permanently damaged by long inflammatory processes. Gaucher’s disease can occur in many different forms with varying degrees of severity.
The diagnosis
If the typical symptoms of Gaucher’s disease exist, a few examinations are usually performed to gradually establish the rare diagnosis of Gaucher’s disease. A pioneering approach is always to ask for hereditary diseases in the family and similar symptoms in relatives. After the physical examination, it is useful to determine the blood cells, which are usually reduced in the case of Gaucher’s disease. The activity of glucocerebrosidase, the enzyme that is reduced in Gaucher’s disease, should then be determined. It must then be determined what effects and damage the disease has already taken place in the body.
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