Musculoskeletal Involvement in Hereditary Hemochromatosis

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A 66-year-old white man with hip arthritis, high serum ferritin levels (7300 ng/mL), and biopsy-confirmed liver cirrhosis received a diagnosis of hereditary hemochromatosis (HH) in 1987. He was treated with periodic phlebotomy and received a total hip replacement at 51 years of age. Arthritis of the second and third metacarpophalangeal joints (hook-like osteophyte [arrowhead in Fig., B]) developed, and in the last 2 years, the patient had suffered progressive bilateral ankle pain without swelling. Serum ferritin levels were normal (<100 ng/mL). Chondrocalcinosis was demonstrated in knees and wrists (arrows in Fig., B and C).
Ankle radiographs showed a normal appearance. Magnetic resonance imaging of the right ankle revealed multiple intraosseous cysts in the talus (arrows in Fig., D and E); there were signs of pericystic edema in the T1 fat-suppressed sequence (arrowheads in Fig., A). Ankle arthropathy due to HH and chondrocalcinosis was diagnosed. Symptomatic treatment with analgesic drugs was prescribed until the current presentation.
Hereditary hemochromatosis arthropathy affects up to two-thirds of patients. It is the presenting symptom in 15% of the cases. Although HH may affect any joint, it has characteristic features that may aid differentiation from other rheumatic diseases such as younger age at onset, location, and male predominance.1
Musculoskeletal symptoms do not seem to respond to iron removal; therapy usually involves symptomatic relief with nonsteroidal anti-inflammatory drugs.1 These patients have a major risk of early secondary osteoarthritis and joint replacement surgery.

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