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Budd-Chiari Syndrome — RACP Adult Medicine MCQ

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HardGastroenterology & HepatologyBudd-Chiari SyndromeRACP Adult Medicine

A 48-year-old man with chronic alcohol use and cirrhosis presents with sudden onset right upper quadrant pain and ascites. CT abdomen with contrast shows hypodense areas in the liver consistent with hepatic vein thrombosis (Budd-Chiari syndrome). Which investigation is most important to exclude an underlying cause?

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Correct answer: C — JAK2 V617F mutation testing

Budd-Chiari syndrome (hepatic vein thrombosis) has an underlying myeloproliferative neoplasm (especially polycythaemia vera or essential thrombocythaemia) in up to 40–50% of cases. JAK2 V617F mutation testing is the single most important investigation to identify occult MPN, which may present with Budd-Chiari as its first manifestation. Full thrombophilia screening is also indicated.

Reference: eTG – 2025 – Gastrointestinal; EASL – 2016 – Vascular Liver Disease Guidelines