Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage

• Main Authors: Khalife S, Bissar-Tadmouri N
• Format: Article
• Language: English
• Published: Dove Medical Press 2020-01-01
• Series: Vascular Health and Risk Management
• Subjects: factor v leiden (g1691a); mthfr (c677t); prothrombin (g20210a); deep venous thrombosis; recurrent pregnancy loss; lebanese family.
• Online Access: https://www.dovepress.com/inherited-thrombophilia-in-a-lebanese-family-of-four-generations-a-cas-peer-reviewed-article-VHRM

Sara Khalife, Nisrine Bissar-Tadmouri Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Tripoli, LebanonCorrespondence: Sara KhalifeDepartment of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Tripoli, LebanonTel [phone]Email [e-mail]: Factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations were investigated in many studies for their association with Deep Venous Thrombosis.Case Presentation: A North Lebanese family has been examined, from an index case, a 40-year-old woman, who had a history of venous thrombosis with unexplained recurrent miscarriage. The index case was found to be heterozygous for factor V Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T gene variants. Her family members were heterozygous for at least two of the three-point mutations, and multiple risk factors associated with thrombophilia were identified.Conclusion: Our findings emphasize the need for clarifying the utility and futility of thrombophilia testing in the era of molecular diagnostics.Keywords: factor V Leiden G1691A, MTHFR C677T, prothrombin G20210A, deep venous thrombosis, recurrent pregnancy loss, Lebanese family