A 41-year-old woman develops sudden right upper quadrant pain, tender hepatomegaly, and ascites with a normal heart on echocardiography. Doppler ultrasound shows absent flow in the hepatic veins. Testing for which abnormality is indicated even if she has no peripheral blood counts suggestive of a myeloproliferative neoplasm?

• A JAK2 V617F mutation ✓
• B Factor V Leiden homozygosity
• C BCR-ABL1 fusion transcript
• D CALR exon 9 frameshift mutation

Explanation

Budd-Chiari syndrome from hepatic vein thrombosis is most often caused by polycythemia vera and other myeloproliferative neoplasms. The JAK2 V617F mutation is detectable in many patients who lack overt peripheral blood changes, so it is screened for in every adult case. Factor V Leiden is a genuine prothrombotic cause but is less frequently implicated than occult myeloproliferative disease. BCR-ABL1 defines chronic myeloid leukemia, which is not a typical cause here.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.