Orthopaedic manifestations of Gaucher disease

Gaucher disease is a rare, hereditary disease caused by lack of a lysosomal enzyme. This results in the accumulation of glucocerebroside in the cells of the reticuloendothelial system, including the bone marrow. The orthopaedic manifestations of this disease are important for the orthopaedic surgeon to recognize and understand. Patients with Gaucher disease are at risk for pathologic fracture, abnormal bony remodeling and delayed healing, increased intraoperative bleeding, and infection. Osteomyelitis and avascular necrosis, two common sequelae of the disease, can present in very similar fashions and warrant careful and accurate diagnosis to ensure proper treatment. The impact of Gaucher disease on the musculoskeletal system is reviewed with emphasis on the importance of understanding these effects for the treating orthopaedic surgeon.