Budd-Chiari Syndrome

Overview – Budd-Chiari Syndrome

Budd-Chiari Syndrome is a rare but clinically significant hepatic vascular disorder caused by obstruction of hepatic venous outflow. This leads to hepatic congestion, ischemia, and ultimately, portal hypertension and liver dysfunction. The condition closely mimics the pathophysiology of nutmeg liver and is important for medical students to recognise due to its association with thrombophilic disorders and risk of liver failure. It can present acutely or insidiously and may progress to cirrhosis if untreated.

Definition

Budd-Chiari Syndrome is defined as hepatic venous outflow obstruction at the level of the hepatic veins or the inferior vena cava, leading to liver congestion, portal hypertension, and hepatic insufficiency.

Aetiology

• Thrombotic or obstructive causes of hepatic vein occlusion:
  • Hypercoagulable states (e.g. polycythaemia vera)
  • Inherited thrombophilias
  • Leukaemia
  • Extrinsic compression from tumours (e.g. hepatic or renal)

Morphology / Pathophysiology

• Venous obstruction → hepatic congestion and hypoperfusion
• Histological findings:
  • Centrilobular (Zone 3) congestion and haemorrhage
  • Centrilobular necrosis progressing to fibrosis and cirrhosis
• Caudate lobe sparing:
  • Due to its independent venous drainage, it may enlarge disproportionately
• Overlap in pathology with congestive hepatopathy (nutmeg liver)

Clinical Features

Symptoms

• Right upper quadrant (RUQ) abdominal pain
• Nausea and vomiting
• Abdominal distension due to ascites

Signs

• Hepatomegaly
• Ascites
• Negative hepatojugular reflux (in contrast with cardiac causes)
• Evidence of portal hypertension (e.g. splenomegaly, varices)

Investigations

• Liver function tests: Elevated AST/ALT, ALP
• Imaging:
  • Doppler ultrasound → first-line for detecting hepatic vein thrombosis
  • MRI or CT for definitive vascular mapping and assessing caudate lobe hypertrophy
• Coagulation studies & thrombophilia screen
• Liver biopsy (if diagnosis remains unclear)

Management

• Address underlying cause (e.g. anticoagulation for thrombosis)
• Supportive care: Diuretics for ascites, nutritional support
• Interventional options:
  • Angioplasty or stenting in selected cases
  • TIPS (Transjugular Intrahepatic Portosystemic Shunt) for portal hypertension
• Liver transplant:
  • In cases of fulminant liver failure or decompensated cirrhosis

Complications

• Chronic hepatic congestion → cirrhosis
• Portal hypertension and associated complications (varices, splenomegaly)
• Liver failure if untreated

Differential Diagnosis

• Nutmeg liver (congestive hepatopathy from right heart failure)
• Cirrhosis (from other causes)
• Portal vein thrombosis
• Hepatic veno-occlusive disease

Summary – Budd-Chiari Syndrome

Budd-Chiari Syndrome is caused by hepatic venous outflow obstruction, often due to thrombosis or external compression, leading to hepatic congestion, portal hypertension, and potential liver failure. Early recognition and management are key to preventing progression to cirrhosis. For more hepatobiliary conditions, refer to our Gastrointestinal Overview page.