Budd‐Chiari syndrome (BCS) is a rare but fatal disease caused by obstruction in the hepatic venous outflow tract.

To provide an update of the pathophysiology, aetiology, diagnosis, management and follow‐up of BCS.

Analysis of recent literature by using Medline, PubMed and EMBASE databases.

Primary BCS is usually caused by thrombosis and is further classified into “classical BCS” type where obstruction occurs within the hepatic vein and “hepatic vena cava BCS” which involves thrombosis of the intra/suprahepatic portion of the inferior vena cava (IVC). BCS patients often have a combination of prothrombotic risk factors. Aetiology and presentation differ between Western and certain Asian countries. Myeloproliferative neoplasms are present in 35%‐50% of European patients and are usually associated with the JAK2‐V617F mutation. Clinical presentation is diverse and BCS should be excluded in any patient with acute or chronic liver disease. Non‐invasive imaging (Doppler ultrasound, computed tomography, or magnetic resonance imaging) usually provides the diagnosis. Liver biopsy should be obtained if small vessel BCS is suspected. Stepwise management strategy includes anticoagulation, treatment of identified prothrombotic risk factors, percutaneous revascularisation and transjugular intrahepatic portosystemic stent shunt to re‐establish hepatic venous drainage, and liver transplantation in unresponsive patients. This strategy provides a 5‐year survival rate of nearly 90%. Long‐term outcome is influenced by any underlying haematological condition and development of hepatocellular carcinoma.

With the advent of newer treatment strategies and improved understanding of BCS, outcomes in this rare disease have improved over the last three decades. An underlying haematological disorder can be the major determinant of outcome.