SUPERStudy: Budd-Chiari Syndrome

By usmlevideoss

Introduction

Budd-Chiari syndrome is caused by the occlusion of hepatic venous outflow due to a thrombus, leading to ischemia from reduced hepatic arterial perfusion and necrosis of hepatocytes.

Epidemiology

  • Incidence: 1 case per million per year.
  • Non-Asian countries: More common in women aged 30–40 years.
  • Asian countries: More common in males.

Risk Factors

  • Hypercoagulable states:
    • Pregnancy, oral contraceptive use.
    • Paroxysmal nocturnal hemoglobinuria (PNH).
    • Polycythemia vera (50% of cases): Budd-Chiari may be its first manifestation.
    • Malignancy (hepatocellular carcinoma is the most common cancer).
    • Hyperprothrombinemia.
    • Protein C, protein S, or antithrombin deficiency.
    • Congenital webs of the vena cava.
    • Hyperhomocysteinemia.
  • Infections: Contribute to thrombosis risk.
  • Trauma: Blunt abdominal trauma.

Pathology

  1. Venous occlusion: Leads to venous congestion and dilated sinusoids.
  2. Liver congestion: Portal venous hypertension decreases blood flow to the liver.
  3. Hypoxic injury: Affects centrilobular hepatocytes → centrilobular congestion, fibrosis, and necrosis.
  4. Chronic changes lead to “nutmeg liver” with regenerative nodules.

Clinical Manifestations

  • Acute presentation:
    • Severe right upper quadrant pain.
    • Tender, painful hepatic enlargement.
    • Jaundice, scleral icterus, vomiting, and acute liver failure.
    • Ascites and visible abdominal/back veins.
    • Absence of jugular venous distention.
  • Chronic presentation:
    • Splenomegaly.
    • Pedal edema.
    • Hepatic encephalopathy.
    • Acute kidney injury.

Diagnosis

  1. Imaging:
    • Screening test of choice: Contrast-enhanced Doppler ultrasound.
    • Findings: Hepatic vein or IVC thrombosis, prominent caudate lobe involvement.
    • CT scan or hepatic venography: Confirmatory tests.
  2. Liver Biopsy:
    • Centrilobular congestion and fibrosis (“nutmeg liver”).
    • Multiple large regenerative nodules.
  3. Laboratory Findings:
    • Elevated liver function tests (LFTs).
  4. Screening for Polycythemia Vera:
    • Test for JAK2 V617F mutation in high-risk patients.

Treatment

  1. Thrombolysis or Anticoagulation:
    • Anticoagulants: Low-molecular-weight heparin, warfarin, DOACs.
    • Thrombolytics: Infusion of thrombolytic agents into occluded veins.
    • Defibrotide: an adenosine receptor agonist for sinusoidal obstruction syndrome.
  2. Surgery:
    • Shunting procedures: Transjugular intrahepatic portosystemic shunt (TIPS).
    • Percutaneous stenting.
    • Liver transplantation in severe or refractory cases.
  3. Ascites Management:
    • Salt and water restriction.

Prognosis

  • Dependent on severity, underlying etiology, and timely intervention.
  • Liver transplantation offers the best outcomes in advanced cases.

SUPERPoint

Budd-Chiari syndrome results from hepatic venous outflow obstruction, causing venous congestion, hepatocyte necrosis, and portal hypertension, requiring early diagnosis and management with anticoagulation, thrombolysis, or surgical interventions.

SUPERFormula

Patient presents with severe right upper quadrant pain + Hepatic venous outflow obstruction (thrombus) + Hypercoagulable states (polycythemia vera, malignancy, pregnancy, PNH) + Venous congestion + Portal hypertension + “Nutmeg liver” + Doppler ultrasound diagnosis + Anticoagulation or thrombolysis + Surgery (TIPS or liver transplant) = Budd-Chiari Syndrome.

References

Current Medical Diagnosis & Treatment 2025

Maxine A. Papadakis, Michael W. Rabow, Kenneth R. McQuaid, Monica Gandhi

https://www.ncbi.nlm.nih.gov/books/NBK558941/

Williams Hematology, 10e

Kenneth Kaushansky, Josef T. Prchal, Linda J. Burns, Marshall A. Lichtman, Marcel Levi, David C. Linch

By Ptrump16 – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=115183469