Budd-Chiari syndrome ✅

Related Subjects: |Liver Function Tests |Ascites Assessment and Management |Antiphospholipid syndrome |Thrombophilia testing |Protein C Deficiency |Protein S Deficiency |Factor V Leiden Deficiency |Antithrombin III deficiency (AT3)

⚠️ Budd–Chiari Syndrome (BCS) is a rare condition caused by hepatic venous outflow obstruction. 🎯 Consider in patients with sudden-onset ascites, painful hepatomegaly, or massive ascites with relatively normal LFTs. 🧠 Acute management aims to restore hepatic venous flow, prevent thrombosis, and manage complications (ascites, hepatic failure, portal hypertension).

💡 Key Point: Early recognition and rapid intervention are critical to prevent liver failure and multi-organ complications.

📌 About

• Obstruction can be hepatic vein thrombosis or inferior vena cava obstruction.
• May present as acute, subacute, or chronic disease.
• Investigate for underlying prothrombotic disorders (myeloproliferative disorders, thrombophilia, OCP use, pregnancy, PNH).

🧬 Pathophysiology

• Thrombosis → ↑ sinusoidal pressure → centrilobular congestion & hepatocyte necrosis (zone 3).
• Extravasation of RBCs → ascites formation, hepatomegaly, and potential liver failure.
• Caudate lobe hypertrophy occurs due to separate venous drainage into IVC.

🤒 Clinical Features

• Classical triad: abdominal pain, hepatomegaly, ascites.
• Acute: severe pain, rapid ascites accumulation.
• Subacute/chronic: progressive ascites, collateral veins, splenomegaly.
• Exacerbation of pre-existing liver disease may occur.

⚡ Risk Factors

• Myeloproliferative disorders: polycythaemia vera, essential thrombocythaemia.
• Malignancy: hepatocellular carcinoma, renal cell carcinoma.
• Inherited thrombophilia: Factor V Leiden, Protein C/S deficiency, antithrombin deficiency.
• Acquired: antiphospholipid syndrome, pregnancy, OCP use, PNH.

🔎 Investigations

• Bloods: FBC, LFTs, INR/PT, renal profile, thrombophilia screen.
• Ascitic fluid: often exudative, protein >2 g/dL, WCC <500/µL.
• Doppler USS: first-line; absent/reversed flow in hepatic veins.
• CT/MRI venography: confirm obstruction, detect collaterals, caudate lobe hypertrophy.
• Liver biopsy: centrilobular congestion/necrosis if diagnosis unclear.
• 99mTc colloid scan: preserved caudate uptake with diminished uptake elsewhere.

⚠️ Complications

• Acute liver failure with encephalopathy.
• Portal hypertension → varices, splenomegaly.
• Hepatorenal syndrome.
• Secondary bacterial peritonitis.
• Progression to cirrhosis or hepatocellular carcinoma.

🩺 Management (Expert-Led)

• General: Stabilise acute liver failure – fluids, correct coagulopathy, lactulose for encephalopathy, antibiotics if infection suspected.
• Anticoagulation: All patients unless contraindicated (LMWH → warfarin/DOAC for long-term).
• Interventional:
  • Catheter-directed thrombolysis for acute thrombus.
  • Balloon angioplasty or stenting for focal obstruction.
  • TIPS: refractory ascites or portal hypertension.
• Surgery: Rarely surgical shunts; largely replaced by TIPS.
• Liver transplantation: Indicated for fulminant liver failure or decompensated chronic disease.

Cases – Budd–Chiari Syndrome

• Acute: 32-year-old woman, polycythaemia vera, sudden RUQ pain, hepatomegaly, ascites. Doppler USS: absent hepatic vein flow. LMWH started, diuretics for ascites, consideration for TIPS. Outcome: improved, outpatient follow-up.
• Subacute/chronic: 45-year-old woman on OCP, months of abdominal distension and leg swelling. MRI: hepatic vein obstruction, caudate lobe hypertrophy. Oral anticoagulation, TIPS performed. Outcome: resolution of ascites, stable LFTs at 1 year.

Teaching Commentary 🧑‍⚕️

Budd–Chiari syndrome results from hepatic venous outflow obstruction, most often thrombotic in origin. Acute cases present with sudden abdominal pain, hepatomegaly, and ascites; chronic cases mimic cirrhosis. Diagnosis relies on Doppler USS ± CT/MRI, with biopsy reserved for unclear cases. Management prioritises anticoagulation, symptomatic relief of ascites, and restoration of venous flow (TIPS or thrombolysis). Liver transplantation is reserved for fulminant or decompensated chronic disease. Early recognition and treatment of underlying prothrombotic states are essential for prognosis.

📚 References

• BSG Guidelines – Budd–Chiari Syndrome
• NICE NG145 – Liver Disease: Assessment and Management
• UpToDate – Budd–Chiari Syndrome