Inherited Thrombophilia in a Lebanese Family of
Four Generations: A Case Report of Recurrent
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
Vascular Health and Risk Management,DOI: 10.2147/VHRM.S235784, ISSN: 1178-2048, Volume: 16, Issue: 16, Pages Range: 53-56,