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Haemochromatosis Arthropathy — RACP Adult Medicine MCQ

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HardRheumatologyHaemochromatosis ArthropathyRACP Adult Medicine

A 50-year-old man with known hereditary haemochromatosis (C282Y homozygous) presents for routine review. His ferritin has been maintained at 40 µg/L with regular venesection. He now reports increasing fatigue and joint pain in his second and third MCPJs bilaterally. X-ray shows chondrocalcinosis and hook-like osteophytes. What is the explanation?

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Correct answer: A — Haemochromatosis arthropathy persists despite iron depletion

Haemochromatosis arthropathy (particularly affecting the 2nd and 3rd MCPJs with chondrocalcinosis – calcium pyrophosphate deposition) can persist and even progress despite successful iron depletion. The joint damage is thought to be due to iron-induced chondrocyte damage and CPPD crystal deposition that is not reversible with phlebotomy. Management is symptomatic with analgesics and anti-inflammatory agents. This is one of the few complications of haemochromatosis that does not improve with treatment.

Reference: eTG – 2025 – Rheumatology; EASL – 2010 – Haemochromatosis Guidelines