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Acute intermittent porphyria presenting with abdominal pain and hyponatraemia — SCE Acute Medicine MCQ

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HardClinical geneticsAcute intermittent porphyria presenting with abdominal pain and hyponatraemiaSCE Acute Medicine

A 26-year-old woman presents with recurrent severe abdominal pain, vomiting, tachycardia and hyponatraemia. She has anxiety, dark urine during attacks and recently started a low-calorie diet and trimethoprim. CT abdomen is normal. Urine porphobilinogen is markedly elevated during symptoms. What is the most likely diagnosis?

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Correct answer: A — Acute intermittent porphyria

Recurrent neurovisceral abdominal pain, autonomic features, hyponatraemia, dark urine and raised urinary porphobilinogen during an attack indicate acute intermittent porphyria. Normal CT abdomen is common and should prevent unnecessary surgery. Management includes stopping precipitating drugs, carbohydrate support, analgesia and specialist advice about haem arginate in severe attacks.

Reference: https://cks.nice.org.uk/#acute-medicine-order-86-1