Gaucher's disease is a lysosomal genetic disease. The cause lies in the deficiency or complete absence of an enzyme, glucocerebrosidase, usually present in lysosomes of macrophages. The enzyme's task is to transform waste fats into reusable sugars. Its deficiency causes the accumulation of lipids in the lysosomes of macrophages, which then become larger. This causes a gradual deterioration of the organs involved.
There are three types of Gaucher disease:
Gaucher Type I: affects adults and has no neurological involvement. It is the most widespread and less severe form.
Gaucher Type II: neuropathic form, affects children and infants. The prenatal form is always lethal.
Gaucher Type III: neuropathic, juvenile form.
Transmission of the disease occurs if both parents are healthy carriers. For this reason, doctors recommend genetic counseling to those who have already had cases in the family. Genetic tests could also be helpful for diagnosis, often difficult.
Type 1 has variable symptoms, even in the presence of the same genetic mutation. It usually manifests with anemia, thrombocytopenia, bone disease. These are the most worrying manifestations, because the abnormal cells infiltrate the bones until they reach the marrow. This causes the lack of platelets, which in turn causes bleeding and anemia. Spontaneous fractures are also frequent.
Type 2 and Type 3 of Gaucher's disease also have neurological consequences. Lipids also accumulate inside the central nervous system. This causes irreversible damage and makes it much more difficult to develop an effective treatment against the disease. In fact, the oral administration of the missing enzymes is only partially effective.