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
January 2000
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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.
- Male
- Adult
- Female
- Humans
- Middle aged
- Research Support, Non-U.S. Gov't
- Risk Factors
- *Mutation
- Case-Control Studies
- Genetic Predisposition to Disease
- Protein S/genetics
- Blood Coagulation Factor Inhibitors/*deficiency
- Contraceptives, Oral/adverse effects
- Factor V/*genetics
- Antithrombins/deficiency
- Hepatic Vein Thrombosis/*genetics
- Portal Vein
- Protein C/genetics
- Prothrombin/*genetics
- Venous Thrombosis/*genetics
- patient
- factor
- protein
- deficiency
- mutation
- prothrombin gene mutation
- protein c deficiency
- leiden
- prothrombin
- thrombosis
- portal vein thrombosis
- antithrombin
- protein c
- study
- risk factor
- control
- budd-chiari syndrome
- antithrombin deficiency
- disease
- risk factors
