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Best Pract Res Clin Rheumatol. 2011 Oct;25(5):627-36. doi: 10.1016/j.berh.2011.10.021.

Miscellaneous non-inflammatory musculoskeletal conditions. Musculoskeletal conditions associated with Wilson's disease.

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AP-HP, Service de Rhumatologie, pôle appareil locomoteur, hôpital Lariboisière (Assistance Publique-Hôpitaux de Paris), Paris, France.


Wilson's disease (WD) is a rare disease, defined as an autosomal recessive disorder characterised by release of free copper and dramatic accumulation of intracellular hepatic copper with subsequent hepatic and central nervous system abnormalities. Mutations of the ATP7B gene are responsible for the metabolic dysfunction. Small open studies have reported spinal radiological abnormalities including scoliosis, diffuse bone demineralisation, osteochondritis and occasionally fracture. Prevalence of osteoporosis in young adult patients is debated, ranging from 10%, with normal mean Z-score values, to 43% in adults. Past history of spinal or peripheral fractures might be present in 50% of patients. Articular disorders include arthralgias of large joints, such as knee pain, rare effusions, early onset of radiological features of osteoarthritis and associated osteochondritis of the knee joint. Radiological chondrocalcinosis, an unusual feature in young adults, has to be confirmed. Few patients may develop drug-induced lupus with arthralgias, positive anti-nuclear and anti-histone antibodies, secondary to D-penicillamine, the major copper chelator used in WD. In this orphan disease, small retrospective studies cannot allow ascertaining definite WD-related articular and bone manifestations. However, such clinical and radiological abnormalities are occasionally the first symptoms leading to diagnosis. Physicians should be aware that unexplained joint pain and effusion, or even radiological features of osteoarthritis, of the large joints in adolescents could suggest WD and lead to copper survey.

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