Description

A rare disorder caused by obstruction of the hepatic venous outflow tract resulting in hepatomegaly, portal hypertension (HTN), right upper quadrant (RUQ) abdominal pain, and ascites

Epidemiology

• ~80% of all Budd-Chiari syndrome (BCS) cases occur in women.
• Average age of BCS patients is 30 years.
• ~85% of BCS patients have at least one prothrombotic risk factor; ~25% have two or more.
• ~40% of BCS patients also have a primary myeloproliferative disorder.

Incidence
~1/100,000 worldwide per year (1)

Prevalence
~1.4/100,000 worldwide per year (1)

Etiology and Pathophysiology

• Reduced or obstructed hepatic venous outflow causes increased sinusoidal pressure, resulting in hepatic congestion, RUQ abdominal pain, and ascites.
• Outflow obstruction can occur anywhere from small hepatic veins to the atriocaval junction.
• Often classified as (i) primary: obstruction arising from within the venous lumen or (ii) secondary: obstruction from outside the venous lumen
• Intraluminal obstructions are typically asynchronous and progressive (1).
• Thrombosis of hepatic vein due to inherited thrombophilia or hypercoagulable states
  • Myeloproliferative diseases (often V617F JAK2 mutation)
  • Polycythemia vera
  • Pregnancy or postpartum state
  • Use of oral contraceptives
  • Paroxysmal nocturnal hemoglobinuria
  • Hepatocellular carcinoma (HCC)
  • Antiphospholipid syndrome; prothrombin mutation
  • Factor V Leiden mutation
  • Hyperhomocysteinemia
  • Protein C and S deficiencies
  • Antithrombin III deficiency
  • Inflammatory bowel disease
  • Behçet syndrome
• Vena caval webs: more common in Asians
• Idiopathic membranous stenosis of inferior vena cava (IVC) or hepatic veins (1)
• Compression of the hepatic veins:
  • HCC
  • Abscess or cysts; sepsis
  • Status postomphalocele or gastroschisis repair
• Bush teas (pyrrolizidine alkaloids)
• Blunt abdominal trauma