Factor V Leiden, prothrombin 20210G → A, methylenetetrahydrofolate reductase 677C → T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism

Objective: To establish the prevalence of inherited and acquired risk factors for development of venous thromboembolism (VTE) in pregnancy and the puerperium. Study design: In a retrospective study, 30 women with a history of objectively confirmed venous thromboembolism during pregnancy or the puerperium were studied. Fifty-six women with normal pregnancies were included as controls. Antithrombin, protein C, protein S, lupus anticoagulants, homocysteine, factor V Leiden mutation, prothrombin 20210G --> A polymorphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T polymorphism and the -675 (4G/5G) polymorphism in plasminogen activator inhibitor I gene were analysed. Results: At least one thrombophilic defect was observed in 16 (53.3%) cases and in 12 (21.4%) controls (P = 0.003); factor V Leiden in 8 (26.7%) cases and 3 (5.7%) controls (P = 0.009); prothrombin 20210G --> A polymorphism in 8 (26.7%) cases and 4 (7.5%) controls (P = 0.021) and antithrombin deficiency in 4 (13.3%) cases and in 1 (1.8%) control (P = 0.029). Other inherited and acquired risk factors were similarly distributed among cases and controls. Conclusion: Women with pregnancy-related venous thromboembolism have an increased prevalence of inheritable thrombophilic defects predisposing them to an increased risk of thrombosis. (C) 2003 Elsevier Ireland Ltd. All rights reserved.