Beyond painful photosensitivity, a patient with longstanding untreated erythropoietic protoporphyria is at particular risk of which visceral complication?
- A Cholestatic liver disease and pigment gallstones from protoporphyrin deposition ✓
- B Progressive ascending motor paralysis during fasting
- C Squamous cell carcinoma arising in chronically blistered skin
- D Haemolytic crises requiring splenectomy in adulthood
Correct answer: A. Cholestatic liver disease and pigment gallstones from protoporphyrin deposition
Explanation
In erythropoietic protoporphyria, ferrochelatase deficiency allows free protoporphyrin IX to accumulate in erythrocytes, plasma, and bile. Excess protoporphyrin is excreted into bile and can precipitate, causing pigment gallstones and, in a minority, progressive cholestatic liver failure. Acute motor paralysis belongs to the acute hepatic porphyrias driven by ALA neurotoxicity, and protoporphyria does not cause blisters or a marked cancer risk, unlike porphyria cutanea tarda.
Reference: Harrisons Principles of Internal Medicine, 21st ed.
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