Case Presentation: A 29-year-old otherwise healthy man presented to the emergency room with five weeks of progressively worsening pruritus and fatigue. The patient denied recent ingestion of herbal supplements, and reported lifetime abstinence from alcohol use. Physical exam revealed jaundice and scleral icterus. No ascites or hepatomegaly were noted on initial exam. Admission labs revealed AST 130 U/L, ALT 71 U/L, alkaline phosphatase 519 U/L, total bilirubin 13.8 mg/dL, direct bilirubin 12.6 mg/dL, albumin 1.1 g/dL, INR 1.5, WBC 2,300/uL, hemoglobin 9.6 g/dL, and platelets 59,000/uL. A comprehensive serologic evaluation for chronic liver diseases was otherwise unremarkable. Urine toxicology screen was negative. Abdominal ultrasound with doppler revealed absent blood flow in the main and right portal veins, and normal blood flow in the left portal vein secondary to intra-abdominal collateral reconstitution. Magnetic resonance imaging (MRI) demonstrated caudate lobe hypertrophy with marked atrophy of the right and left hepatic lobes, and splayed, attenuated hepatic veins. This constellation of clinical findings confirmed evidence of Budd-Chiari syndrome (BCS). Although treatment for Budd-Chiari syndrome typically involves anticoagulation, anticoagulation was deferred given the patient’s coagulopathy and need for liver transplantation in the context of progressive liver failure. Basic hypercoagulability work-up was negative, and no malignancies were identified. Following diagnosis, the patient was listed for orthotopic liver transplantation.
Discussion: BCS is defined by hepatic vein obstruction often in the setting of a hypercoagulable state. The presentation of BCS is variable – patients commonly present with acute BCS (marked by new ascites), but can rarely present with acute liver failure, subacute BCS, or chronic BCS. When patients present with subacute or chronic BCS, ascites may be minimal due to the development of venous collaterals. Our patient presented with chronic BCS, and our case is atypical given the patient’s initial manifestations of jaundice and pruritus in the absence of ascites. Timely diagnosis and management of BCS is critical given nearly 90% mortality within three years in untreated patients.
Conclusions: Although the differential diagnosis for new jaundice is extensive, BCS should be considered even in the absence of classic symptoms such as ascites. BCS can be diagnosed on ultrasound and cross-sectional imaging. Once diagnosed, it is important for hospitalists to evaluate for hypercoagulable states, and to exclude underlying malignancy. Initial treatment involves anticoagulation and restoration of hepatic venous outflow (thrombolysis, stenting, portosystemic shunting, etc.). However, in select patients with fulminant liver failure or chronic BCS with decompensated cirrhosis, liver transplantation is often the only management option.