Abstract
Gaucher disease is a rare hereditary metabolic disease. Due to the lack of activity of the lysosomal enzyme glucocerebrosidase, glucocerebroside accumulates in the lysosomes of the affected cells.
Gaucher disease manifests most often by enlargement of the spleen, liver, signs of bleeding diathesis and skeletal involvement. Thrombocytopenia, anemia or leucopenia occurs in the lab, and changes in bone marrow of the vertebrae and long bones can be displayed on the MRI.
Confirmation of the diagnosis is possible at the enzymatic and molecular genetic level. Substitution of the missing enzyme by intravenous infusion or attempt to reduce the substrate, which is normally cleaved by glucocerebrosidase, is used in therapy.
A comprehensive approach is needed, including symptomatic treatment and genetic counseling.