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Hereditary Haemochromatosis — RACP Adult Medicine MCQ

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EasyGastroenterologyHereditary HaemochromatosisRACP Adult Medicine

A 55-year-old man with known hereditary haemochromatosis (HFE C282Y homozygote) presents with fatigue, arthralgia, and bronze skin discolouration. Ferritin is 2500 μg/L and transferrin saturation is 85%. Liver biopsy shows grade 3 fibrosis with hepatic iron overload. What is the most appropriate treatment?

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Correct answer: A — Venesection (phlebotomy)

Hereditary haemochromatosis with elevated ferritin and TSAT requires therapeutic venesection (phlebotomy). The target is ferritin 50–100 μg/L. Initially, 500 mL venesection is performed weekly until ferritin is normalised, then maintenance venesections every 2–4 months. Liver fibrosis may improve with iron depletion. Screening of first-degree relatives is essential.

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