, 16:393
Date: 22 Nov 2013

HFE-Related Hemochromatosis: An Update for the Rheumatologist

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Hereditary hemochromatosis is a frequent disease in Caucasian populations. It leads to progressive iron overload in a variety of organs. The most common cause is the C282Y homozygous mutation in the HFE gene. The classical triad of skin hyperpigmentation, diabetes, and liver cirrhosis is nowadays rare but musculoskeletal symptoms are common in HFE-related hemochromatosis. Typically the second and third metacarpophalangeal joints, and the wrist, hip, and ankle joints are affected. Clinical symptoms include osteoarthritis-like symptoms, pseudogout attacks, and synovitis sometimes resembling rheumatoid arthritis. Radiographs show degenerative changes with joint space narrowing, osteophytes, and subchondral cysts. Chondrocalcinosis in the wrist and knee joints is seen in up to 50 % of patients. Although most other organ manifestations regress during phlebotomy, musculoskeletal symptoms often persist or even become worse. Importantly, patients are at an increased risk of severe large-joint arthritis necessitating joint replacement surgery. Therefore, future research should focus on the pathogenesis and treatment options for HH arthropathy.

This article is part of the Topical Collection on Orphan Diseases