What is Fabry’s disease? Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies. As … Fabry’s disease symptoms, causes and treatment
The diagnosis Fabry disease is not always easy to diagnose, and patients often have a long history of suffering before symptoms can be attributed to Fabry disease. It often takes several years for a doctor to make the correct diagnosis. If Fabry disease is suspected, the doctor makes the diagnosis by means of a series … The diagnosis | Fabry’s disease symptoms, causes and treatment
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 … Gaucher disease
Classification according to severity Type I of Gaucher’s disease is also called “non-neuropathic form”. This means that no nerve damage occurs in this form. Here, the enzyme glucocerebrosidase is still working to a certain extent, so that the first problems occur in adulthood. These manifest themselves through enlargement of the spleen and liver. These organs … Classification according to severity | Gaucher disease
The treatment To directly address the cause of the disease, the patient must be supplied with the required enzyme. The therapy of Gaucher’s disease therefore consists in the administration of the enzyme by means of infusions through a venous access. This can be done, for example, once a month in a higher dosage or several … The treatment | Gaucher disease
Life expectancy Life expectancy in Gaucher’s disease depends mainly on the severity and type of the disease. Type I Gaucher disease, as a non-neuropathic disease, has only a slightly reduced life expectancy. The chronic neuropathic form is characterized by drastic life restrictions and severe suffering on the part of the patient. However, it is difficult … Life expectancy | Gaucher disease
