title: 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.
abstract: 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.
authors.affiliation: Department of Gastroenterology and Hepatology, Leiden University Medical Center; Department of Hepatogastroenterology, Erasmus University Hospital, Rotterdam, The Netherlands.
authors.forename: H L
authors.initials: HL
authors.lastname: Janssen
authors.forename: J R
authors.initials: JR
authors.lastname: Meinardi
authors.forename: F P
authors.initials: FP
authors.lastname: Vleggaar
authors.forename: S H
authors.initials: SH
authors.lastname: van Uum
authors.forename: E B
authors.initials: EB
authors.lastname: Haagsma
authors.forename: F J
authors.initials: FJ
authors.lastname: van Der Meer
authors.forename: J
authors.initials: J
authors.lastname: van Hattum
authors.forename: R A
authors.initials: RA
authors.lastname: Chamuleau
authors.forename: R P
authors.initials: RP
authors.lastname: Adang
authors.forename: J P
authors.initials: JP
authors.lastname: Vandenbroucke
authors.forename: B
authors.initials: B
authors.lastname: van Hoek
authors.forename: F R
authors.initials: FR
authors.lastname: Rosendaal
mesh_terms: D000328:Adult; D000991:Antithrombins / Q000172:deficiency; D019774:Blood Coagulation Factor Inhibitors / Q000172:deficiency*; D006502:Budd-Chiari Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D003276:Contraceptives, Oral / Q000009:adverse effects; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011169:Portal Vein; D011486:Protein C / Q000235:genetics; D017293:Protein S / Q000235:genetics; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D000991:Antithrombins; D019774:Blood Coagulation Factor Inhibitors; D003276:Contraceptives, Oral; D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin