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Haemochromatosis Raised Ferritin — RACP Adult Medicine MCQ

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EasyGastroenterologyHaemochromatosis Raised FerritinRACP Adult Medicine

A 45-year-old man has a ferritin of 1200 μg/L. TSAT is 70%. HFE genotyping shows C282Y homozygosity. ALT is 65 U/L. He has arthralgia in the MCP joints (2nd and 3rd). Liver MRI (FerriScan) shows hepatic iron concentration of 180 μmol/g (markedly elevated). What is the most likely cause of raised ferritin?

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Correct answer: C — Hereditary haemochromatosis

Elevated ferritin with high TSAT (>45%), C282Y homozygosity, elevated hepatic iron on MRI, and MCP arthropathy (2nd/3rd MCPs — classic haemochromatosis joint involvement) is hereditary haemochromatosis. Treatment: therapeutic venesection targeting ferritin 50-100 μg/L. Arthropathy may not improve despite iron depletion (calcium pyrophosphate deposition occurs). Screen first-degree relatives with HFE genotyping and iron studies.

Reference: GESA – 2024 – Haemochromatosis; HA-GI Guidelines