What are the symptoms and treatment options for Budd Chiari syndrome?

Symptoms and Treatment of Budd-Chiari Syndrome

Budd-Chiari syndrome (BCS) typically presents with abdominal pain, ascites, and hepatomegaly, and requires a stepwise treatment approach beginning with immediate anticoagulation, followed by angioplasty if feasible, then transjugular intrahepatic portosystemic shunt (TIPS) if medical treatment fails, and finally liver transplantation for non-responders. 1, 2

Clinical Presentation

The clinical presentation of BCS is heterogeneous, ranging from asymptomatic to fulminant hepatic failure. Common symptoms and signs include:

• Abdominal pain (particularly upper right quadrant)
• Ascites (present in 83% of patients)
• Hepatomegaly (present in 67% of patients)
• Portal hypertension manifestations
• Jaundice
• Liver dysfunction (elevated liver enzymes, coagulopathy)
• Refractory ascites (in chronic cases)
• Signs of cirrhosis (in advanced cases)

Asymptomatic presentation may occur when large hepatic venous collaterals develop. Without treatment, 90% of patients die within 3 years, primarily from complications of liver cirrhosis 3.

Diagnostic Approach

Diagnosis requires radiological confirmation of hepatic venous outflow obstruction:

1. Doppler ultrasound - First-line investigation with >75% sensitivity 1, 2
2. MRI or CT - When ultrasound is inconclusive or not available 1, 2
3. Venography - For uncertain diagnosis or to characterize anatomy before treatment 1
4. Liver biopsy - When imaging fails to demonstrate large vein obstruction 1

Etiological Investigation

All patients should be investigated for underlying causes:

• Myeloproliferative disorders (most common cause)
• Inherited thrombophilias (Factor V Leiden mutation, etc.)
• Acquired thrombophilias
• Paroxysmal nocturnal hemoglobinuria
• Autoimmune disorders
• Local factors (tumors, compression)

The American Association for the Study of Liver Diseases emphasizes that most cases result from an underlying hypercoagulable state, with myeloproliferative disorders being the most common cause 1, 2.

Treatment Algorithm

1. Medical Treatment

• Immediate anticoagulation with low molecular weight heparin for 5-7 days, followed by oral vitamin K antagonists (target INR 2-3) 1, 2
• Anticoagulation should be continued indefinitely, particularly in patients with underlying myeloproliferative disorders 1
• Treatment of underlying conditions, especially myeloproliferative disorders 1, 2
• Management of ascites and varices following standard protocols for portal hypertension 1

2. Angioplasty/Stenting/Thrombolysis

• Indicated for patients with short and singular stenosis of hepatic veins or IVC 2
• Stent placement reduces the rate of re-stenosis 2
• Local thrombolysis may be combined with angioplasty in cases of new and incomplete thrombosis 2

3. Transjugular Intrahepatic Portosystemic Shunt (TIPS)

• Indicated when medical treatment and angioplasty fail 1, 2
• Especially useful in cases of fulminant BCS 2
• Regular follow-up with Doppler ultrasound every 6 months to detect dysfunction 2

4. Liver Transplantation

• Reserved for patients with failed TIPS, fulminant hepatic insufficiency, or advanced cirrhosis with deteriorating liver function 1, 2
• Evaluation for transplantation should be initiated as soon as TIPS is indicated 2
• Best results are obtained in patients with thrombosis limited to the hepatic veins 1, 2

Important Considerations and Pitfalls

• Do not delay anticoagulation once diagnosis is established 2
• Do not overlook screening for underlying prothrombotic disorders, which are present in up to 75% of BCS cases 2, 3
• Avoid delaying referral to a transplant center for patients with fulminant hepatic failure 1, 2
• Monitor for bleeding complications while on anticoagulation (reported in 17-50% of patients) 1
• Be aware that approximately 40% of patients develop hypervascular hepatic nodules (focal nodular hyperplasia, adenoma, hepatocellular carcinoma) 2
• Close clinical and imaging follow-up is necessary after TIPS 2
• Pregnancy can unmask an underlying clotting disorder leading to BCS, warranting investigation 1

In pregnant patients with BCS, low-molecular-weight heparin is the anticoagulant of choice, as vitamin K antagonists are contraindicated due to risk of fetal hemorrhage and teratogenicity 1.