[Arthropathy as the first manifestation of undiagnosed hemochromatosis: a case report on an unusual course].

Abstract

A 54-year-old man presented with increasing arthralgia and swelling of the metacarpophalangeal (MCP) joints II and III for approximately 2 years. He also reported morning stiffness and joint pain in both knees and feet.Both MCP joints II and III and the proximal interphalangeal joints II and III were tender without visible swelling. X-rays of the hands showed symmetrical osteoarthritic changes of the MCP joints I-III on both sides. Joint ultrasound revealed symmetrical osteophyte formation without inflammatory signs. Laboratory tests showed elevated ferritin (1436µg/l), iron (252µg/dl), and transferrin saturation (79%). Genetic testing confirmed a homozygous C282Y mutation, and FibroScan elastography indicated advanced fibrosis.Hemochromatosis-associated arthropathy.A symptom-oriented analgesic treatment with Metamizole was initiated. During the hospital stay, the patient received physical and occupational therapy. Hepatology specialists will manage further treatment at a university center, and the outcome remains to be seen.Symmetrical involvement of the MCP joints II and III should raise suspicion of hemochromatosis.