Vascular health and risk management · 2020
Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Khalife Sara, Bissar-Tadmouri Nisrine
Аннотация
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.
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.