GastroenterologyTier 2Disease (DEADMAN)

Budd-Chiari syndrome

Description

Budd-Chiari syndrome - obstruction of hepatic venous outflow (hepatic veins or the suprahepatic inferior vena cava), causing hepatic congestion, portal hypertension, and, if untreated, progressive liver injury/failure

Rare; most commonly associated with an underlying hypercoagulable state (myeloproliferative neoplasms - particularly polycythaemia vera and essential thrombocythaemia, often with an underlying JAK2 mutation - are the single most common identifiable cause)

Hepatic venous outflow obstruction -> sinusoidal congestion and increased sinusoidal pressure -> centrilobular hepatocyte injury/necrosis and, over time, fibrosis -> post-sinusoidal (hepatic venous) portal hypertension - a distinct pattern from the more common cirrhotic (sinusoidal) portal hypertension

Classic triad: abdominal pain, ascites, hepatomegaly - onset can be acute, subacute, or chronic depending on the speed and completeness of venous occlusion
Doppler ultrasound (absent/reversed/turbulent hepatic venous flow) is first-line; CT/MRI with venous phase imaging confirms and characterises the obstruction
Investigate for an underlying prothrombotic cause in every case (JAK2 mutation/myeloproliferative neoplasm screening, thrombophilia workup) given how frequently one is identified and how it changes long-term management

Anticoagulation is standard in essentially all patients once diagnosed, regardless of the specific underlying cause, given the thrombotic pathophysiology
Interventional/surgical options for symptomatic or progressive disease: angioplasty/stenting of a focal venous stenosis, TIPS (transjugular intrahepatic portosystemic shunt) for more extensive obstruction, and liver transplantation for fulminant/end-stage disease
Treat the identified underlying cause (e.g. cytoreductive therapy for an underlying myeloproliferative neoplasm) alongside local hepatic management

Myeloproliferative neoplasms (JAK2-mutated), other thrombophilias (antiphospholipid syndrome, factor V Leiden), pregnancy/oral contraceptive use, paroxysmal nocturnal haemoglobinuria

Outcome depends heavily on the speed of diagnosis and treatment initiation - acute presentations treated promptly with anticoagulation +/- intervention have a reasonable prognosis, while delayed diagnosis allows progression to cirrhosis and liver failure, at which point transplantation may become the only option

6 more sections, plus exam facts

Premium unlocks every note across every specialty, and the full exam fact library behind it.