Primary Budd-Chiari syndrome is characterized by a blocked hepatic venous outflow tract at various levels from small hepatic veins to inferior vena cava, resulting from thrombosis or its fibrous sequellae. This rare disease affects mainly young adults. Multiple risk factors have been identified and are often combined in the same patient.
Proposed work-up for investing underlying risk factors of Budd-Chiari syndrome
A. In all patients
- Personal and familial history of recurrent spontaneous deep vein thrombosis
- Oral contraceptive use in female patients
- V617F JAK 2 mutation in peripheral blood granulocytes. When the mutation is undetected, bone marrow biopsy looking for clusters of dystrophic megacaryocytes (myeloproliferative diseases)
- Flow cytometry for CD55 and CD59 deficient blood cells (paroxysmal nocturnal hemoglobinuria)
- Activated protein C resistance. When present molecular test for Factor V Leiden mutation
- Molecular test for G20210A prothrombin gene mutation
- Lupus anticoagulant, anti beta2 glycoprotein-1 antibodies, anticardiolipin antibodies (antiphospholpid syndrome)
B. In patients with no marked liver dysfunction (normal prothrombin- level)
- Protein C, protein S and antithrombin plasma levels
- Plasma homocystein levels
C- In patients with familial or personal history of recurrent spontaneous deep vein thrombosis: refer to blood coagulation specialist for a detailed study
References:
- Garcia-Pagán JC, Valla DC. Primary Budd-Chiari Syndrome. N Engl J Med. 2023 Apr 6;388(14):1307-1316. [Medline]
- Valla DC. Primary Budd-Chiari syndrome. J Hepatol. 2009 Jan;50(1):195-203. [Medline]
Created Dec 14, 2023.
