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Haemochromatosis Arthropathy — SCE Rheumatology MCQ

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ModerateOsteoarthritisHaemochromatosis ArthropathySCE Rheumatology

A 45-year-old woman presents with gradually progressive symmetrical pain and stiffness affecting the metacarpophalangeal joints. Examination shows bony enlargement of the second and third MCP joints without active synovitis. Hand radiographs show joint-space narrowing, subchondral cysts and hook-like osteophytes at the second and third metacarpal heads. Serum ferritin is 1200 micrograms/L and transferrin saturation is 65%. What is the most likely diagnosis?

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Correct answer: DHaemochromatosis-associated arthropathy

The diagnosis is haemochromatosis-associated arthropathy. Its characteristic hand pattern is bilateral involvement of MCP2 and MCP3 with accelerated osteoarthritis-like change, particularly joint-space narrowing, subchondral cysts and hook-like osteophytes at the metacarpal heads. The markedly raised transferrin saturation and ferritin strongly support associated iron overload, although confirmation of hereditary haemochromatosis requires the appropriate genetic and, in some genotypes, imaging assessment. Rheumatoid arthritis can involve the MCP joints but typically produces synovitis and marginal erosions rather than hook osteophytes. Erosive osteoarthritis predominantly affects DIP and PIP joints. CPPD can coexist with haemochromatosis and cause chondrocalcinosis or acute arthritis, but does not better explain this combined biochemical and radiographic pattern. Psoriatic arthritis would usually have additional characteristic clinical or radiographic features.

Reference: Girelli D, Marchi G, Busti F. Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation. Hematology Am Soc Hematol Educ Program. 2024;2024(1):434-442. https://pubmed.ncbi.nlm.nih.gov/39644049/