Makindo Medical Notes

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 should always be considered in patients with sudden onset ascites, painful hepatomegaly, or massive ascites with relatively normal LFTs. 🎯 Acute management focuses on restoring hepatic venous outflow, preventing further thrombosis, and treating complications of acute liver failure.

📌 About

• Rare cause of acute or chronic liver failure, due to hepatic venous outflow obstruction.
• Most commonly due to thrombosis of hepatic veins or IVC outflow.
• Always investigate for an underlying prothrombotic state.

🧬 Aetiology & Pathophysiology

• Thrombosis in hepatic veins → ↑ sinusoidal pressure → centrilobular congestion & necrosis (zone 3).
• Extravasation of RBCs into the space of Disse, hepatocyte necrosis, and ascites formation.
• Most common in young to middle-aged adults (20–40 years).

🤒 Clinical Features

• Classical triad: Abdominal pain, ascites, hepatomegaly.
• Ascites initially exudative → becomes transudative over time.
• Acute, subacute, or chronic forms → chronic disease may progress to cirrhosis.
• Characteristic finding: hypertrophy of the caudate lobe (separate venous drainage into IVC).

⚡ Causes / Risk Factors

• Myeloproliferative disorders: Polycythaemia vera, essential thrombocythaemia.
• Malignancy: Hepatocellular carcinoma, renal cell carcinoma.
• Thrombophilia: Factor V Leiden, Protein C/S deficiency, antiphospholipid syndrome, pregnancy, OCP use, PNH (paroxysmal nocturnal haemoglobinuria).

🔎 When to Suspect Budd-Chiari

• Sudden ascites + painful hepatomegaly + relatively normal LFTs.
• Sinusoidal dilatation on biopsy without cardiac disease.
• Unexplained chronic liver disease with prothrombotic background.
• Fulminant hepatic failure with ascites.

🧪 Investigations

• Bloods: FBC, clotting profile, LFTs, renal panel, 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: If USS equivocal – demonstrates obstruction, collaterals, or caudate lobe hypertrophy.
• Liver biopsy: Shows centrilobular congestion & necrosis.
• 99mTc colloid scan: Preserved caudate uptake with diminished uptake elsewhere.

⚠️ Potential Complications

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

🩺 Management

• General: Manage acute liver failure – fluids, correct coagulopathy, lactulose, antibiotics if infection suspected.
• Anticoagulation: All patients unless contraindicated.
• Intervention:
  • Catheter-directed thrombolysis (for acute clots).
  • Balloon angioplasty or stenting if focal obstruction.
  • TIPS for refractory ascites or portal hypertension.
• Surgery: Rarely surgical shunts; now largely replaced by TIPS.
• Liver transplantation: Indicated in fulminant liver failure or cirrhotic stage. Can correct inherited thrombophilias (e.g. Protein C/S deficiency).

Cases — Budd–Chiari Syndrome

• Case 1 (Acute presentation): A 32-year-old woman with polycythaemia vera presents with sudden severe right upper quadrant pain, hepatomegaly, ascites, and jaundice. Ultrasound with Doppler shows absent flow in the hepatic veins. Management: Started on LMWH, later transitioned to lifelong anticoagulation. Ascites managed with spironolactone and therapeutic paracentesis. Haematology involved for cytoreductive therapy for polycythaemia. Outcome: Gradual improvement with symptomatic control. Referred for consideration of TIPS (transjugular intrahepatic portosystemic shunt) if ascites becomes refractory. Continues outpatient follow-up.
• Case 2 (Subacute/chronic presentation): A 45-year-old woman on the oral contraceptive pill presents with months of abdominal distension, leg swelling, and fatigue. Exam: hepatomegaly, ascites, collateral veins across the abdominal wall. MRI confirms hepatic vein outflow obstruction with caudate lobe hypertrophy. Management: Oral anticoagulation initiated, OCP discontinued. Ascites treated with salt restriction and diuretics. Referred for TIPS procedure, which is successfully performed, improving venous outflow. Outcome: Significant symptomatic improvement, ascites resolves. Maintained on anticoagulation with hepatology follow-up; stable liver function at 1 year.

Teaching Commentary 🧑‍⚕️

Budd–Chiari syndrome is hepatic venous outflow obstruction, most often due to thrombosis. Causes include myeloproliferative disorders (polycythaemia vera), prothrombotic states (OCP use, factor V Leiden), and malignancy. Clinical features are the triad of abdominal pain, ascites, hepatomegaly. Acute cases present dramatically, while subacute cases may mimic chronic liver disease. Diagnosis is with Doppler US, CT, or MRI. Management combines anticoagulation, diuretics, paracentesis, and in refractory disease, TIPS or liver transplantation. Prognosis depends on underlying cause and severity at presentation.