musculoskeletal manifestations of Wilson disease
Musculoskeletal manifestations occur in 50% of patients but are rarely the presenting symptom because all patients have other manifestations of Wilson disease. Pain and swelling of the MCPs, wrists, elbows, shoulders, knees, and hips resembling hemochromatosis may occur, although asymptomatic radiographic changes are equally as common. Radiographically, subchondral and cortical fragmentation, as well as marginal, subchondral, and central bony sclerosis of the wrist, hand, elbow, shoulder, and knee, help to distinguish this arthropathy from primary osteoarthritis. Unlike hemochromatosis, involvement of the hip and MCP joints is uncommon. Less common radiographic findings include osteochondritis dissecans, chondrocalcinosis, chondromalacia patellae, and vertebral wedging. Generalized osteoporosis or osteomalacia may be present as a result of Fanconi syndrome or renal tubular acidosis, both of which are common in Wilson disease.
