Abstract
Gaucher disease is a rare autosomal recessive disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate in macrophages. Infiltration of bone marrow, spleen, and liver by Gaucher cells leads to hepatosplenomegaly and cytopenias. Skeletal involvement may follow three processes: irreversible lesions such as osteonecrosis, reversible changes such as long bone deformity, and generalized osteopenia or osteoporosis. Bone involvement in Gaucher disease can have a significant impact on the outcome of the patients. Diagnostic awareness and prompt initiation of specific therapy are central to optimizing outcomes and preventing further complications.
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