Budd-Chiari syndrome

Introduction

Budd–Chiari syndrome is a rare but serious vascular liver disorder caused by obstruction of hepatic venous outflow. This leads to hepatic congestion, hepatomegaly, portal hypertension, and, if untreated, liver failure. It may be acute, subacute, or chronic in presentation.

Peak Incidence

• Typically affects individuals aged 40–60 years.
• More common in females, especially those with risk factors such as pregnancy, use of oestrogen-containing contraceptives, or myeloproliferative disorders.

Pathophysiology

• The obstruction occurs at the level of the hepatic veins, inferior vena cava (IVC), or both.
• This blocks hepatic venous drainage, leading to hepatic sinusoidal congestion, increased portal venous pressure, and reduced hepatic perfusion.
• Causes include:
  • Prothrombotic states: myeloproliferative neoplasms (especially polycythaemia vera), antiphospholipid syndrome, Factor V Leiden, protein C/S deficiency.
  • External compression: tumours, abscesses, or cysts.
  • Idiopathic in some cases.

Symptoms

Classical triad:

1. Right upper quadrant abdominal pain
2. Ascites
3. Hepatomegaly

Other symptoms:

• Jaundice (especially in acute or fulminant forms)
• Fatigue and weight loss
• Nausea and vomiting
• Lower limb oedema (in more advanced cases)
• Features of portal hypertension:
  • Oesophageal varices
  • Splenomegaly
  • Caput medusae

Signs

• Tender hepatomegaly
• Ascites with abdominal distension
• Jaundice
• Splenomegaly (especially in chronic cases)
• Bilateral ankle oedema
• Normal jugular venous pressure – helps differentiate from congestive heart failure
• Signs of chronic liver disease in longstanding cases

Diagnosis

Imaging (first-line and confirmatory):

• Doppler ultrasound – first-line test
  • Demonstrates absent or reversed hepatic vein flow
• CT abdomen with contrast / MRI
  • Identifies thrombus, stenosis, or occlusion of hepatic veins or IVC
  • May show a “nutmeg liver” appearance due to congestion

Additional investigations:

• Liver function tests
  • Elevated AST/ALT (mild to moderate)
  • Raised bilirubin
  • Possible hypoalbuminaemia in chronic disease
• Thrombophilia screen
  • Factor V Leiden, prothrombin gene mutation, antiphospholipid antibodies, JAK2 mutation (for polycythaemia vera), etc.
• Ascitic fluid analysis (if ascites present):
  • High SAAG (serum–ascites albumin gradient)
  • Low total protein (<2.5 g/dL)

Complications

• Portal hypertension (may cause variceal bleeding)
• Hepatic encephalopathy
• Acute liver failure
• Progression to cirrhosis due to chronic venous congestion
• Hepatocellular carcinoma (HCC) in chronic cases
• Renal impairment (due to hepatorenal physiology)

Management

Aims:

• Restore hepatic venous outflow
• Prevent progression to liver failure
• Treat the underlying cause and manage complications

Stepwise management approach:

1. Anticoagulation (first-line for most patients):
   • Start with low molecular weight heparin or unfractionated heparin, then transition to warfarin or DOACs (e.g. apixaban)
   • Lifelong anticoagulation is typically indicated
2. Thrombolysis
   • Reserved for acute thrombosis with significant liver dysfunction
   • Often via catheter-directed approach
3. Endovascular interventions
   • Balloon angioplasty ± stenting if hepatic vein stenosis is present
   • TIPS (transjugular intrahepatic portosystemic shunt): creates a shunt between the portal and hepatic veins to decompress portal hypertension
4. Diuretics
   • For management of ascites (e.g. spironolactone ± furosemide)
   • Sodium restriction and fluid balance monitoring
5. Liver transplantation
   • Considered in decompensated cirrhosis, refractory BCS, or fulminant liver failure
   • Requires multidisciplinary transplant centre assessment