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ESSENTIALS OF DIAGNOSIS

ESSENTIALS OF DIAGNOSIS

  • Right upper quadrant pain and tenderness.

  • Ascites.

  • Imaging studies show occlusion/absence of flow in the hepatic vein(s) or inferior vena cava.

  • Clinical picture is similar in sinusoidal obstruction syndrome, but major hepatic veins are patent.

GENERAL CONSIDERATIONS

Factors that predispose patients to hepatic venous outflow obstruction, or Budd-Chiari syndrome, including hereditary and acquired hypercoagulable states, can be identified in up to 85% of affected patients; multiple disorders are found in up to 45%. Up to 50% of cases are associated with polycythemia vera or other myeloproliferative neoplasms (which entail a 1% risk of Budd-Chiari syndrome). These cases are often associated with a specific pathogenic variant (V617F) in the gene that codes for JAK2 tyrosine kinase and may otherwise be subclinical. In some cases, somatic mutations in the gene coding for calreticulin and, rarely, in the gene coding for the thrombopoietin receptor have been found. Other predispositions to thrombosis (eg, activated protein C resistance [factor V Leiden mutation] [25% of cases], protein C or S or antithrombin deficiency [23%], antiphospholipid antibodies [20%], hyperprothrombinemia [factor II G20210A pathogenic variant] [rarely], the methylenetetrahydrofolate reductase TT677 variant) may be identified in other cases. Hepatic vein obstruction may be associated with caval webs, right-sided HF or constrictive pericarditis, neoplasms that cause hepatic vein occlusion, paroxysmal nocturnal hemoglobinuria, hyperhomocysteinemia, Behçet syndrome, vasculitis, sarcoidosis, IBD, celiac disease, blunt abdominal trauma, use of oral contraceptives, and pregnancy. In India, China, and South Africa, Budd-Chiari syndrome is associated with a poor standard of living and often the result of occlusion of the hepatic portion of the inferior vena cava, presumably due to prior thrombosis. The clinical presentation is mild, but the course is frequently complicated by hepatocellular carcinoma.

Some cytotoxic agents and pyrrolizidine alkaloids (comfrey or “bush teas”) may cause sinusoidal obstruction syndrome (previously known as veno-occlusive disease because the terminal venules are often occluded), which mimics Budd-Chiari syndrome clinically. Sinusoidal obstruction syndrome may occur in patients who have undergone hematopoietic stem cell transplantation, particularly those with pretransplant serum aminotransferase elevations or fever during cytoreductive therapy with cyclophosphamide, azathioprine, carmustine, busulfan, etoposide, or gemtuzumab ozogamicin or those receiving high-dose cytoreductive therapy or high-dose total body irradiation.

CLINICAL FINDINGS

A. Symptoms and Signs

The presentation is most commonly subacute but may be fulminant, acute, or chronic; it may present as acute-on-chronic liver failure (see Cirrhosis). Clinical manifestations generally include ascites, painful hepatic enlargement, jaundice, splenomegaly, and AKI. With chronic disease, bleeding varices and hepatic encephalopathy may be evident; hepatopulmonary syndrome may occur.

B. Imaging

Hepatic imaging studies may show a prominent caudate lobe since its venous drainage may be occluded. The screening test of choice is contrast-enhanced, color, or pulsed-Doppler ultrasonography, which has a sensitivity of 85% for detecting evidence of ...

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