HFE-Related Hemochromatosis: An Update for the Rheumatologist

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,...