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


Introduction: 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.


Sara Mohamad Khalife


Nisrine Bissar tadmouri

Journal/Conference Information

Vascular Health and Risk Management,DOI: 10.2147/VHRM.S235784, ISSN: 1178-2048, Volume: 16, Issue: 16, Pages Range: 53-56,