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DEFINITION

Budd-Chiari syndrome (BCS) is a rare disease characterized by hepatic venous outflow obstruction at any level from the intrahepatic venules to the suprahepatic segment of the inferior vena cava (IVC).

PATHOPHYSIOLOGY

Liver dysfunction in BCS is not secondary to a primary liver disease, but rather due to the subsequent effects of hepatic venous obstruction:1,2

  • Increased hepatic sinusoidal pressure occurs secondary to hepatic venous outflow obstruction.

  • Hepatic congestion causes centrilobular fibrosis, nodular regenerative hyperplasia, liver dysfunction, and cirrhosis.

  • Portal venous inflow is obstructed, leading to portal hypertension and associated clinical sequelae.

ETIOLOGY

The cause of hepatic venous obstruction in BCS is likely multifactorial, but is based on abnormal clot formation that is either an inherited or acquired hypercoagulable disease, membranous obstruction of the vena cava (MOVC), or primary IVC thrombosis.

  • Western populations more commonly develop BCS secondary to prothrombotic conditions:

    • Factor V Leiden mutation, protein C/S deficiency, antithrombin III deficiency, prothrombin G20210A mutation, myeloproliferative disorders (polycythemia vera, paroxysmal nocturnal hemoglobinuria, essential thrombocytosis, etc.)

  • Eastern populations more commonly develop BCS secondary to MOVC or primary IVC thrombosis:

    • Infections in this group of patients in China, Nepal, India, and South Africa are thought to be the triggering event of IVC thrombosis

CLINICAL PRESENTATION

BCS most frequently presents subacutely (>90%), characterized by a nonspecific triad of abdominal pain, ascites, and hepatomegaly. Fulminant liver failure with massive hepatocyte necrosis is seen in approximately 5% of patients. In addition to these findings, the following helps characterize the different forms of BCS:

  • Fulminant: BCS develops within days, and the presentation is typical of acute liver failure, including signs and symptoms of:

    • Elevated liver enzymes, hyperbilirubinemia, coagulopathy, encephalopathy, renal failure, lower extremity edema, nausea, and vomiting

  • Acute: A similar symptomatology to fulminant BCS, but occurs within a month rather than days and in addition to presenting with intractable ascites.

  • Subacute: This is the most common presentation in patients with BCS secondary to a prothrombotic disorder and has an insidious onset over the course of a few months. Patients usually develop decompressive collateral vessels and remain relatively asymptomatic.

  • Chronic: Onset occurs over months to years and presents with the sequelae of portal hypertension:

    • Abdominal distension secondary to massive ascites, minimally affected liver function tests, renal failure (50%), esophageal variceal bleeding (15%), splenomegaly, and encephalopathy

DIAGNOSIS

BCS should remain in the differential of any patient presenting with acute or chronic liver disease, especially in patients with known prothrombotic syndromes.

  • Any imaging modality (Doppler ultrasonography, contrast-enhanced triphasic computed tomography [CT], magnetic resonance imaging [MRI]) that identifies an obstructed hepatic venous outflow tract in the hepatic veins or IVC with the additional findings of upstream hepatic vein dilation, presence of thrombus, evidence of veins devoid of signal downstream, ...

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