Table 2 Proposed work-up for acquired conditions in patients with primary Budd–Chiari syndrome
Prothrombotic conditionDiagnostic features
Myeloproliferative disease*V617F JAK2 mutation in granulocytes is fully specific.
Where undetectable or unavailable: several clusters of dystrophic megakaryocytes at bone marrow biopsy
Paroxysmal nocturnal haemoglobinuriaCD55- and CD59-deficient clone at flow cytometry of peripheral blood cells
Ham–Dacie and sucrose tests where flow cytometry is unavailable
Behcet’s diseaseSet of conventional criteria (including IVC thrombosis)
Antiphospholipid syndromeIdiopathic venous or arterial thrombosis, or repeated miscarriage
Plus, repeatedly detectable:
    high serum levels of anticardiolipin antibodies†
    or lupus anticoagulant
    or antiβ2 glycoprotein 1 antibodies

  • *In many affected patients, blood cell counts are normal or decreased. The combination of an enlarged spleen with platelet counts >200 000/mm3 is highly suggestive that a myeloproliferative disease is present.

  • †In many patients, low, fluctuating levels of anticardiolipin antibodies are present. Their diagnostic value is uncertain.

  • IVC, inferior vena cava; JAK2, Janus tyrosine kinase-2.