Budd–Chiari syndrome

Overview

Budd–Chiari syndrome is a rare but serious condition caused by the obstruction of hepatic venous outflow, leading to impaired drainage of blood from the liver. This results in increased pressure in the liver (hepatic congestion), liver enlargement, pain, ascites, and eventually liver dysfunction or failure. The syndrome can be acute, subacute, or chronic and may develop gradually or suddenly, depending on the underlying cause and extent of venous blockage.

Causes

Budd–Chiari syndrome is most commonly caused by thrombosis (blood clot formation) in the hepatic veins or the inferior vena cava. Underlying causes and risk factors include:

• Myeloproliferative disorders – such as polycythemia vera or essential thrombocythemia

• Inherited thrombophilias – including factor V Leiden mutation, protein C or S deficiency, and antithrombin III deficiency

• Antiphospholipid syndrome

• Pregnancy and oral contraceptive use

• Cancer – especially hepatocellular carcinoma or renal cell carcinoma

• Infections or inflammatory disorders

• Idiopathic (unknown cause) – in a significant number of cases

Symptoms

Symptoms of Budd–Chiari syndrome vary depending on whether the condition is acute or chronic. Common clinical features include:

• Abdominal pain – especially in the upper right quadrant

• Hepatomegaly – enlarged liver

• Ascites – fluid buildup in the abdomen

• Jaundice – yellowing of the skin and eyes (less common in chronic cases)

• Leg swelling – due to associated venous congestion

• Nausea or vomiting

• Fatigue or malaise

• In severe or advanced cases:

  • Portal hypertension

  • Liver cirrhosis or failure

  • Hepatic encephalopathy

Diagnosis

Early diagnosis is crucial for effective treatment of Budd–Chiari syndrome. The diagnostic process may include:

• Physical examination – detecting hepatomegaly, ascites, or signs of liver dysfunction

• Blood tests – liver function tests (LFTs), coagulation profile, complete blood count, and tests for thrombophilia

• Doppler ultrasound – non-invasive and often the first imaging used to detect blood flow abnormalities in hepatic veins

• CT scan or MRI – to evaluate hepatic vein patency and liver structure

• Venography – the gold standard for confirming venous obstruction, though used less frequently due to advances in non-invasive imaging

• Liver biopsy – may be performed to assess liver damage or rule out other liver diseases

Treatment

Treatment of Budd–Chiari syndrome focuses on relieving venous obstruction, preventing further clot formation, and managing liver-related complications. A stepwise approach is usually taken:

• Anticoagulation therapy – long-term use of blood thinners (e.g., warfarin) to prevent further thrombosis

• Diuretics and salt restriction – to manage ascites

• Paracentesis – for draining ascitic fluid in symptomatic cases

• Endovascular interventions:

  • Angioplasty with or without stenting to restore vein patency

  • Thrombolysis to dissolve clots in acute cases

• TIPS (Transjugular Intrahepatic Portosystemic Shunt) – creates a pathway for blood to bypass the blocked hepatic veins and relieve portal hypertension

• Liver transplantation – reserved for cases with advanced liver failure or when other treatments fail

Prognosis

The prognosis of Budd–Chiari syndrome depends on the underlying cause, severity of liver damage, and how quickly treatment is initiated. With early diagnosis and appropriate therapy, many patients achieve good outcomes. Chronic cases may progress slowly, but complications such as cirrhosis, portal hypertension, or liver failure can worsen prognosis. Long-term anticoagulation and close monitoring are often required to prevent recurrence and manage complications. Advances in imaging, interventional procedures, and transplantation have significantly improved survival rates in recent years.