<p>Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage</p>

Abstract

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.

Association of venous thromboembolism and myocardial infarction with Factor V Leiden and Factor II gene mutations among Libyan patients

“…Recent data showed high prevalence of Factor V Leiden 1691G/A variation in cases like preeclamptic patients [ 29 ] and miscarriage in women [ 30 ] and in vitro fertilization [ 31 ]. Further studies with larger samples are required to test these findings in the Libyan population.…”

Investigation of the Relationship Between Inherited Thrombophilia and Novel Coronavirus Pneumonia

“…The prothrombin gene ( F2 ) rs1799963 variant known as G20210A, factor V Leiden ( F5 ) rs6025 variant known as G1691A and PAI-1 rs1799768 variant are important polymorphic biomarkers of thrombophilia. Patients with multiple gene defects have a high risk of thrombosis [ 5 ]. Despite the hypercoagulation complications observed in NCP patients, there have been no previous investigations in terms of genetic thrombophilia predisposition.…”

Atrial fibrillation and thrombophilia. DOAC as a valid alternative? A clinical case

“…This case underlines the role of thrombophilia in increasing the risk for thromboembolism. In fact our patient, who had heterozygosity for factor V Leiden mutation (a genetic disorder characterized by a low response to activated protein C), [20][21][22][23] developed a thrombus in the LAA despite therapy with warfarin.…”

“…A diagnosis of heterozygous factor V of Leiden was made. [15][16][17][18][19][20][21][22][23] After 1 week of treatment, we performed another TEE, which showed persistence of the thrombotic mass in the LAA (Fig. 2B).…”