Factor V Leiden related Budd-Chiari syndrome

Abstract

Background - The role of factor V Leiden as a cause of Budd-Chiari syndrome has only recently been described. Aims - To assess the specific features of factor V Leiden related Budd-Chiari syndrome. Patients - Sixty three consecutive patients with hepatic vein or terminal inferior vena cava thrombosis. Methods - Standardised chart review. Results - Factor V Leiden was found in 20 patients (31% (95% CI 20-43)). In the subgroup of patients with, compared with the subgroup without, factor V Leiden, a combination of prothrombotic states was more common (70% (95% CI 50-90) ν 14% (95% CI 3-24)); inferior vena cava thrombosis was more frequent (40% (95% CI 19-61) ν 7% (95% CI 0-14)); and distribution of initial alanine aminotransferase values was bimodal (almost normal or extremely increased) versus unimodal (p=0.003). Factor V Leiden accounted for four of five cases of massive ischaemic necrosis (transaminases >50-fold the upper limit of normal values) (p=0.014), and also for all three cases developing during pregnancy. Patients with and without factor V Leiden did not differ with regard to mortality, portosytemic shunting, or listing for liver transplantation. Hepatocellular carcinoma developed in two patients; both had factor V Leiden and indolent obstruction of the inferior vena cava. Conclusions - In patients with Budd-Chiari syndrome, factor V Leiden (a) is common; (b) precipitates thrombosis mostly when combined with another risk factor; (c) is associated with one of two contrasting clinical pictures: indolent thrombosis - particularly of the inferior vena cava - or massive ischaemic necrosis; and (d) is a major cofactor of Budd-Chiari syndrome developing during pregnancy.