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Licensed Unlicensed Requires Authentication Published by De Gruyter September 21, 2011

Factor V Leiden, prothrombin G20210A substitution and hormone therapy: indications for molecular screening

  • Maria Grazia Andreassi , Nicoletta Botto and Silvia Maffei

Abstract

Venous thromboembolism is a well-known complication of oral contraception and hormonal replacement therapy. Inherited thrombophilia is viewed as an important determinant in modulating the effects of estrogens on thrombotic risk. An increasing number of kits for thrombophilic mutations [factor V Leiden, G20210A prothrombin and methylenetetrahydrofolate reductase (MTHFR) C677T genes] are becoming commercially available, and screening for inherited thrombotic risk is among the most requested genetic tests in molecular diagnostic laboratories. However, the question of routine genetic screening for thrombophilia before prescribing hormones is still a matter of debate. The purpose of this article is to discuss the usefulness and practical applications of thrombotic genetic testing to identify which women should be tested to improve both the safety and efficacy of individualized estrogen therapy.


Corresponding author: Maria Grazia Andreassi, CNR-Institute of Clinical Physiology, G. Pasquinucci Hospital, Via Aurelia Sud-Montepepe, 54100 Massa, Italy Phone: +39-0585-493646, Fax: +39-0585-493601,

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Received: 2006-1-10
Accepted: 2006-2-6
Published Online: 2011-9-21
Published in Print: 2006-5-1

©2006 by Walter de Gruyter Berlin New York

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