Budd-Chiari Syndrome

Question: A 25 year old female presents to the emergency department with the acute onset of abdominal pain.  On physical exam you detect hepatomegaly and a subtle fluid wave.  CT scan reveals a thrombus in the IVC.  Which of the following conditions is not associated with Budd-Chiari Syndrome?

A. JAK2 mutation

B. protein C deficiency

C. Wilson disease

D. hepatocellular carcinoma

Answer: The findings of tender hepatomegaly and ascites should raise the suspicion of Budd-Chiari syndrome.  The diagnosis can be made through doppler ultrasound or more expensive imaging like CT and MRI.  This patient should be treated with anticoagulation, and the underlying cause should be determined.

Hypercoagulable states should be investigated (factor V Leiden, antithrombin III, prothrombin gene mutation, antiphospholipid syndrome and protein C and S deficiency) as well as common causes in young females, like pregnancy and oral contraceptive use.  The Jak2 mutation is another hypercoagulable state, and therefore can be implicated in this syndrome.

Both benign and malignant hepatic lesions, perhaps through invasion or mass effect (compression) should be investigated.  In the end, the cause may not be found; idiopathic Budd-Chiari is a common occurence.  Wilson disease has no recognized association with this syndrome.

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