Budd Chiari Syndrome

Budd Chiari syndrome is hepatic venous outflow obstruction at the level of the hepatic veins or the suprahepatic inferior vena cava, excluding cardiac and sinusoidal causes.

• Incidence 1 per million per year; women predominate in the West, and membranous IVC obstruction is common in Asia and Africa.
• Primary thrombosis (the commonest): myeloproliferative neoplasms (JAK2 V617F in 40 to 50%), paroxysmal nocturnal haemoglobinuria, antiphospholipid syndrome, factor V Leiden, oral contraceptives, pregnancy, Behçet disease, inflammatory bowel disease.
• Secondary compression or invasion: hepatocellular carcinoma, renal cell carcinoma, hydatid cyst, abscess.
• A prothrombotic cause is found in 80%, and multiple in 25%.
• Acute, subacute and chronic presentations. Untreated mortality is high.
• Complications: ascites, portal hypertension, ischaemic hepatitis, cirrhosis, HCC.

• Classic triad: abdominal pain, ascites and tender hepatomegaly.
• Fulminant form with encephalopathy and jaundice (rare).
• Chronic: ascites refractory to diuretics, variceal bleeding, splenomegaly, caudate hypertrophy, leg oedema and collateral veins if IVC is involved.
• Up to 20% asymptomatic.

• Doppler ultrasound: absent or reversed hepatic vein flow, intrahepatic collaterals, caudate hypertrophy (sensitivity over 85%).
• Contrast CT or MRI to confirm and assess IVC, portal vein and masses. Venography for intervention planning.
• Ascitic fluid: high protein (above 2.5 g/dL), SAAG over 1.1.
• Thrombophilia work up: JAK2, CALR and MPL mutations, flow cytometry for PNH, antiphospholipid antibodies, factor V Leiden, prothrombin gene mutation, protein C, S and antithrombin (interpret cautiously), Behçet screen.
• Liver biopsy rarely needed.

Stepwise therapy

1. Anticoagulation for all: enoxaparin 1 mg/kg twice daily, then warfarin target INR 2 to 3 lifelong (DOACs are increasingly used but data are limited; avoid in PNH with eculizumab considerations). Treat the cause (hydroxyurea 15 to 20 mg/kg daily or ruxolitinib for myeloproliferative disease, eculizumab for PNH).

2. Symptomatic care: sodium restriction, spironolactone 100 to 400 mg with furosemide 40 to 160 mg, paracentesis, variceal prophylaxis (carvedilol, band ligation).

3. Angioplasty with or without stenting for short hepatic vein or IVC stenoses.

4. TIPS (covered stent) if medical therapy and angioplasty fail, or in progressive disease.

5. Liver transplantation for fulminant presentation or TIPS failure.

• Surgical shunts are rarely used. Post TIPS surveillance with Doppler.
• Prognosis: 5 year survival is about 85% with stepwise therapy.