Review 45
IntroductionThrombophilia is a disorder caused by inherited and acquired defects and is defined as a predisposition to thrombosis (1).The most common cause of acquired thrombophilia is the antiphospholipid syndrome (APS). Inherited thrombophilia constitutes a group of abnormalities of blood coagulation, including the factor V Leiden mutation (FVL) (homozygous or heterozygous), the prothrombin (FII) G20210A mutation (Pm) (homozygous or heterozygous), and deficiencies of the endogenous anticoagulants, antithrombin (AT), protein C, and protein S. Among these conditions, FVL and Pm are relatively common, while the others are rare. FVL is a point mutation (G1691A), resulting in an altered factor resistant to inactivation by protein C. The Pm leads to a 20%-50% increase in plasma prothrombin levels (2, 3). The prevalence of inherited thrombophilia in the general western population is estimated to be approximately 15% (4). However, it seems that there is a significant variation in the prevalence of these conditions among different geographical and tribal populations. FVL varies from 0.6% to 7.0%, with the lowest frequency observed in Africa (0%-0.6%) and the highest in Southern Europe (7%). The mean prevalence in Northern Europe is 4%. The prevalence of Pm varies from 0.2% to 3%, being lowest in Africa (0%-0.3%) and highest in Southern Europe (3%). The mean value in Northern Europe is 2%. Protein C, protein S, and AT deficiencies are extremely rare (0.2%-0.4%, 0.03%-0.1%, and 0.02%-0.2%, respectively) (5).The role of inherited thrombophilia in pregnancy loss and vascular gestational disorders has been investigated in several studies, and the results seem to be contradictory. The aim of this review was to elucidate the association of inherited thrombophilia and reproductive disorders. The value of screening women for inherited thrombophilia and the treatment options during pregnancy are also discussed.The association between inherited thrombophilia and reproductive disorders 1. Inherited thrombophilia and infertility Coulam et al. (6) reported that a prothrombotic tendency is associated with unexplained infertility, but this finding was not in agreement with data from Casadei et al. (7). To date, there has been no conclusive evidence in the literature to suggest an association of inherited thrombophilia and infertility other than recurrent implantation failure (8). Di Nisio et al. (9) conducted a systematic review and meta-analysis of all the available studies on the role of inherited thrombophilia in implantation failure. A significant association was found only for FVL [Odds ration (OR) 3.08; 95% confidence interval (CI) 1.77-5.36].
Inherited thrombophilia and recurrent pregnancy lossIt is estimated that approximately 25% of conceptions and 15% of all clinically recognized pregnancies end in a miscarriage (10, 11). Moreover, three or more successive losses affect 1%-2% of women of reproductive age, and two or more successive losses affect approximately 5% (12). Although several Apart from its established ro...