Nguyen Yann, Stirnemann Jérôme, Belmatoug Nadia
Service de médecine interne, centre de référence des maladies lysosomales, AP-HP Nord, Université de Paris, hôpital Beaujon, Clichy, France.
Service de médecine interne générale, hôpitaux universitaires de Genève, Genève, Suisse.
Rev Prat. 2020 Apr;70(4):416-420.
Gaucher disease. Gaucher disease is a rare lysosomal autosomal recessive disease, caused by a deficiency of glucocerebrosidase, a lysosomal enzyme. The most frequent symptoms are cytopenia, splenomegaly, hepatomegaly, and potentially severe bone involvement (bone infarcts, avascular osteonecrosis, and pathological fractures). Neurological involvement may occur in type 2 and type 3 Gaucher disease. Patients with type 1 Gaucher disease have an increased risk of Parkinson disease, some solid cancers, and some hematologic malignancies including multiple myeloma. Patients often experience delays before their disease is being diagnosed. Thus, there is a need for physicians to recognize Gaucher disease symptoms to reduce the risk of irreversible complications.
