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A Multicenter MRI Protocol for the Evaluation and Quantification of Deep Vein Thrombosis
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Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis

Carolyn B Coulam1, Diane Wallis, Jordan Weinstein

  • 1Rinehart Center for Reproductive Medicine, Evanston, IL, USA. cbcoulam@aol.com

American Journal of Reproductive Immunology (New York, N.Y. : 1989)
|September 23, 2008
PubMed

Insights

Inherited thrombophilia increases risks for deep vein thrombosis and recurrent pregnancy loss. Factor XIII V34L and PAI-1 4G/5G mutations are more common in women with recurrent pregnancy loss, indicating broader screening is needed.

Area of Science:

  • Genetics and Molecular Biology
  • Reproductive Medicine
  • Cardiovascular Disease Research

Background:

  • Inherited thrombophilia is a known risk factor for cardiovascular diseases like deep venous thrombosis (DVT) and reproductive issues such as recurrent pregnancy loss (RPL).
  • Previous research identified specific thrombophilic mutations (PAI-1 4G/5G, factor XIII V34L, MTHFR C677T) associated with RPL.

Purpose of the Study:

  • To compare the frequencies of nine inherited thrombophilias.
  • To assess these frequencies among women with RPL, individuals with DVT, and fertile controls.

Main Methods:

  • DNA analysis of nine gene polymorphisms from buccal swabs of 634 participants.
  • Populations included 550 women with RPL, 43 with DVT, and 41 fertile controls.
  • Polymorphisms analyzed: factor V G1691A, factor V H1299R (R2), factor II Prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, human platelet antigen 1 a/b (L33P), MTHFR C677T, MTHFR A1298C.

Main Results:

  • Individuals with DVT showed significantly higher frequencies of all studied polymorphisms compared to RPL and control groups.
  • Factor XIII V34L and PAI-1 4G/5G mutations were significantly more frequent in women with RPL versus controls.
  • Factor XIII V34L and PAI-1 4G/4G were the most prevalent polymorphisms in both DVT and RPL groups.

Conclusions:

  • Current screening for inherited thrombophilia, focusing only on Factor V Leiden, Factor II Prothrombin, and MTHFR, may overlook prevalent risk factors.
  • Broader genetic screening for thrombophilia is recommended for individuals with RPL and DVT.
Abstract

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