Haemochromatosis.
Arthropathy is a prominent but still underappreciated aspect of haemochromatosis. Clinical descriptions have characterized typical features, including involvement of the 2nd-3rd metacarpophalangeal joints with an osteoarthritic-like picture. Virtually any joint can be involved and can be a presenting clue to the underlying disease. The recent demonstration of the HFE gene on chromosome 6 with characteristic mutations should encourage further investigation. However, the pathogenesis of the arthropathy is not yet well understood. Treatment is also empirical and often unsatisfactory. Phlebotomies, although valuable to treat or prevent other features, do not predictably benefit the arthropathy.
Division of Rheumatology, University of Pennsylvania, School of Medicine, Philadelphia 19104, USA.
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Schumacher
D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology / Q000628:therapy; D011859:Radiography