In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS patients and 92 PVT patients with 474 population-based controls. The relative risk of BCS was 11.3 (95% CI 4.8-26.5) for individuals with factor V Leiden mutation, 2.1(95% CI 0.4-9.6) for those with prothrombin gene mutation, and 6.8 (95% CI 1.9-24.4) for those with protein C deficiency. The relative risk of PVT was 2.7 (95% CI 1.1-6.9) for individuals with factor V Leiden mutation, 1.4 (95% CI 0.4-5.2) for those with prothrombin gene mutation, and 4.6 (95% CI 1.5-14.1) for those with protein C deficiency. The relative risk of BCS or PVT was not increased in the presence of inherited protein S or antithrombin deficiency. Concurrence of either acquired or inherited thrombotic risk factors was observed in 26% of the BCS patients and 37% of the PVT patients. We conclude that factor V Leiden mutation and hereditary protein C deficiency appear to be important risk factors for BCS and PVT. Although the prevalence of the prothrombin gene mutation was increased, it was not found to be a significant risk factor for BCS and PVT. The coexistence of thrombogenic risk factors in many patients indicates that BCS and PVT can be the result of a combined effect of different pathogenetic mechanisms.

Additional Metadata
Keywords *Mutation, Adult, Antithrombins/deficiency, Blood Coagulation Factor Inhibitors/*deficiency, Case-Control Studies, Contraceptives, Oral/adverse effects, Factor V/*genetics, Female, Genetic Predisposition to Disease, Hepatic Vein Thrombosis/*genetics, Humans, Male, Middle aged, Portal Vein, Protein C/genetics, Protein S/genetics, Prothrombin/*genetics, Research Support, Non-U.S. Gov't, Risk Factors, Venous Thrombosis/*genetics
Persistent URL hdl.handle.net/1765/9467
Journal Blood
Citation
Janssen, H.L.A, Vandenbroucke, J.P, Rosendaal, F.R, van Hoek, B, Meinardi, J.R, Vleggaar, F.P, … Adang, R.P.R. (2000). Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. Blood. Retrieved from http://hdl.handle.net/1765/9467