Vascular Health and Risk Management (Jan 2020)
Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage
Abstract
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 +961 70 557389Email [email protected]: 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
