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Porphyria Cutanea Tarda — RACP Adult Medicine MCQ

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ModerateGastroenterologyPorphyria Cutanea TardaRACP Adult Medicine

A 55-year-old man with hepatitis C and heavy alcohol intake presents with skin fragility, blistering on the dorsum of hands (sun-exposed areas), hypertrichosis, and hyperpigmentation. He has no abdominal pain or neurological symptoms. Urinary uroporphyrins are markedly elevated. Serum ferritin is 800 μg/L. What is the most likely diagnosis?

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Correct answer: E — Porphyria cutanea tarda

Skin fragility and blistering on sun-exposed areas (dorsal hands) with hypertrichosis and hyperpigmentation in the absence of acute neurovisceral attacks, associated with HCV, alcohol, and iron overload, with elevated urinary uroporphyrins is porphyria cutanea tarda (PCT). It is the commonest porphyria. Treatment: phlebotomy (to reduce iron), low-dose hydroxychloroquine, and treating HCV/alcohol.

Reference: eTG – 2024 – Porphyria; BPG 2024