skip to main content

Variegate Porphyria — RACP Adult Medicine MCQ

Instant feedback + full explanation. One question, done properly.

HardGastroenterologyVariegate PorphyriaRACP Adult Medicine

A 30-year-old woman presents with both acute neurovisceral attacks (abdominal pain, neuropathy) AND photocutaneous symptoms (skin fragility, blistering on sun-exposed areas). Urinary PBG and ALA are elevated during attacks. Faecal protoporphyrin is elevated. She has a family history of similar symptoms in South Africa. What is the most likely diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — Variegate porphyria

Combined neurovisceral attacks AND photocutaneous blistering with elevated faecal protoporphyrin and South African ancestry is variegate porphyria. VP has both features of AIP (acute attacks) and PCT (skin fragility). Elevated faecal protoporphyrin distinguishes VP from AIP. VP is prevalent in South Africa due to a founder mutation. Management of acute attacks is the same as AIP.

Reference: eTG – 2024 – Porphyria; BPG 2024