Case Presentation: A 66 year-old woman with a prior history of alcohol abuse presented from an outside hospital for further evaluation of a one week history of increasing abdominal distension, lower extremity edema and a CT scan showing ascites, hepatomegaly and splenomegaly with concern for cirrhosis. Initial lab evaluation was significant for elevated liver chemistries, elevated INR, leukocytosis, erythrocytosis and mild thrombocytosis. A right upper quadrant ultrasound showed chronic liver parenchymal disease and no detectable flow in the middle hepatic vein. She was started on a heparin drip with subsequent improvement in liver chemistries. Transjugular liver biopsy with portal venous measurements was unsuccessful due to inability to access the hepatic veins. Therefore, she underwent a percutaneous liver biopsy which revealed significant centrilobular hepatocyte loss consistent with Budd-Chiari syndrome. Magnetic resonance venography confirmed an occlusive thrombus in the middle hepatic vein, right hepatic vein and possibly the left hepatic vein. This was followed by a bone marrow biopsy which showed hypercellular marrow with panhyperplasia consistent with a myeloproliferative neoplasm. Peripheral blood and bone marrow JAK2 V617F mutation was detected consistent with Polycythemia Vera. She was discharged on diuretics for management of her ascites and anticoagulation initially with enoxaparin and then dabigatran for her thrombosis.
Discussion: Budd-Chiari syndrome is a rare disorder characterized by obstruction of the hepatic venous outflow tract anywhere from the level of the hepatic veins to the atriocaval junction. The increased pressure and congestion in the hepatic veins results in hypoxic injury to hepatocytes and centrilobular fibrosis. It is most often associated with hypercoagulable states, particularly myeloproliferative neoplasms which are the leading cause of the disease. Doppler ultrasound of the liver is a useful first step in diagnosis as it has both a relatively high specificity and sensitivity (~85%). Magnetic resonance venography is useful for better visualization of hepatic vein thrombosis. Hepatic venography is confirmatory as it not only allows for portal venous pressure measurements, but also access for transjugular liver biopsy. Favorable outcomes are often achieved with medical management – diuretics to manage ascites and anti-coagulation for thrombosis. Treating the underlying cause, often myeloproliferative neoplasms, is essential. Surgical interventions such as thrombolytic therapy, transjugular intrahepatic portosystemic shunts and transplantation are other considerations depending on the severity of Budd-Chiari syndrome. This case highlights the importance of avoiding cognitive biases like anchoring and confirmation bias. While it could have been easy to attribute her cirrhosis and elevated liver chemistries to alcohol abuse, a thorough chronic liver disease and hematological work up was pursued to arrive at the diagnosis.
Conclusions: Though a rare disease (1 in 100,000), Budd-Chiari should be considered in the differential diagnosis of patients presenting with ascites, abdominal pain, elevated liver chemistries and especially hematologic abnormalities.