Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis • Decr ß-glucocerebrosidase activity • Mutation in GBA1 gene Clinical Manifestations • Neurological involvement (type 2 and 3) • Splenomegaly > 90% • Hepatomegaly 60-80% • Osteonecrosis, bone infarcts, osteoporosis 80% By Dr. Yann Nguyen @YannNgyn #Gauchers #Disease #Diagnosis #Signs #Symptoms
