Bone disease in patients with Gaucher disease

Gaucher disease is an inborn error of metabolism due to a deficiency of the lysosomal enzyme glucocerebrosidase. As a result of this deficiency, the substrate glucocerebroside accumulates in the liver, spleen, bone and bone marrow. Bone involvement can lead to abnormalities in bone growth, bone remodeling, bone infarcts, aseptic necrosis, osteonecrosis, increased fracture risk and lytic bone lesions. Patients may experience bone pain and bone crises related to bone infarcts. There is evidence of abnormal bone metabolism in both bone resorption and bone formation based upon biochemical abnormalities found in patients. In addition, both immunological and coagulation abnormalities have in part been implicated in the causation of bone disease. Treatment with enzyme replacement therapy and substrate reduction therapy has led to improvement in both the symptoms and the radiographic abnormalities seen in these patients. It is unknown whether these treatments lower fracture risk.