Recurrent Pregnancy Loss and Thrombophilia

Abstract

Emerging data seem to be available also on the role of active thromboprophylaxis with heparin and pregnancy outcome. In the last decades we found many data concerning the association between a hypercoagulable state and its causes and adverse pregnancy outcome, in particular recurrent pregnancy loss (RPL). First studies which focused on the association between thrombophilia and RPL underlined the role of reduced clotting inhibitors and RPL, and subsequent studies underlined a pathogenetic role of gene variant associated to hypercoagulable state in the occurrence of RPL. On the other hand, acquired thrombophilic abnormalities as antiphipsholipid syndrome are a well known cause of RPL and should be considered for a screening. These data are relevant because recent studies suggested a role of an extensive thromprophilaxis in women with RPL that should be addressed only in case of known thrombophilia and high risk of venous thromboembolism.

Angiotensin-converting enzyme insertion/deletion (I/D) polymorphisms and recurrent pregnancy loss: a meta-analysis

“…In addition, the ACE I/D polymorphism has been found to be associated with the disease and the hypofibrinolytic disorders [11,12]. Although the exact factors for RPL are not confirmed, the inherited predisposition to thrombophilia may be one of the main causes according to some studies [13][14][15][16][17].…”

Correlation between factor VII and PAI-1 genetic variants and recurrent miscarriage

“…Importantly, numerous studies have already proven the existence of a correlation between inherited thrombophilia and pregnancy loss [1][2][3][4][5][6]. Standard diagnostic testing for thrombophilia in these patients involves factor V Leiden, 677C>T MTHFR gene polymorphism, 20210G>A prothrombin gene polymorphism, protein C, protein S and antithrombin deficiency.…”

Thrombophilia gene mutations in relation to recurrent miscarriage

“…Several studies reported increasing evidence for a pathogenetic role of MTHFR gene polymorphism C677T in recurrent pregnancy loss, in particular, early loss. [9][10][11] On the other hand, other authors found a negative association stating that MTHFR polymorphisms do not carry any risk in pregnancy. 12,13 The different inclusion criteria and the different ethnic backgrounds of the selected patients may have contributed to the contradictory results.…”

“…The same results were reported by previous studies that identified combined thrombophilic defects in women with recurrent pregnancy loss, both early and late. 10,18,19 The study by Rozano-Gorelick et al reported that combined thrombophilia exists when inherited and /or acquired prothrombotic factors are pooled and every combination carries a different risk of thrombosis. 18 Furthermore, Sarig et al proposed a scoring system for women with thrombophilia based on four major categories: obstetric history, previous thromboembolic events, family history of thrombosis or gestational vascular complications and type of thrombophilia.…”