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Haemochromatosis Pigmentation — RACP Adult Medicine MCQ

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EasyGastroenterologyHaemochromatosis PigmentationRACP Adult Medicine

A 55-year-old man with hereditary haemochromatosis (C282Y homozygote) presents with bronze-grey skin discolouration, diabetes, hepatomegaly, and arthropathy. Ferritin is 3500 μg/L and TSAT 90%. What is the mechanism of skin pigmentation?

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Correct answer: C — Haemochromatosis

Bronze skin pigmentation in haemochromatosis results from iron deposition in the skin (stimulating melanin production) combined with direct iron-mediated skin discolouration. The triad of bronze diabetes, hepatomegaly, and arthropathy is classic. Diagnosis: HFE genotyping. Treatment: therapeutic venesection to normalise ferritin (target 50-100 μg/L).

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