Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombinG20210A in FinnGen and the UK Biobank. The factor V Leiden (FVL; rs6025) and prothrombinG20210A (PTGM; rs1799963) polymorphisms are 2 of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood
The risk of major bleeding in patients with factor V Leiden or prothrombinG20210A gene mutation while on extended anticoagulant treatment for venous thromboembolism. Thrombophilia predisposes to venous thromboembolism (VTE) because of acquired or hereditary factors. Among them, it has been suggested that gene mutations of the factor V Leiden (FVL) or prothrombinG20210A mutation (PGM) might factor V and prothrombin genes (HR, 0.73; 95% CI = 0.55-0.97; p = .03). This study demonstrates that thrombophilia, defined as the presence of either FVL or the prothrombinG20210A mutation, is related with a lower rate of major/clinically relevant nonmajor bleeding while on anticoagulants in the extended treatment for VTE.
Genetic correlation between ProthrombinG20210A polymorphism and retinal vein occlusion risk. The aim of this study was to perform an updated meta-analysis to quantitatively investigate the association between G20210A polymorphism of Prothrombin gene and the risk of retinal vein occlusion (RVO), based on the available publications with inconsistent results. We utilized the Stata software
Factor-V Leiden G1691A and prothrombinG20210A polymorphisms in Sudanese women with preeclampsia, a case -control study. Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period homozygous variation A/A and it was not detected in the controls. ProthrombinG20210A variations not detected neither in the cases nor in the controls group. High prevalence of Factor V Leiden 1691G/A variation in preeclamptic patients compared to controls suggest an involvement of this variation in predisposing to preeclampsia in this setting.
Do factor V Leiden and prothrombinG20210A mutations predict recurrent venous thromboembolism in older patients? The value of genetic thrombophilia testing in elderly patients with an unprovoked venous thromboembolism is unclear. We assessed whether the Factor V Leiden and the prothrombinG20210A mutation are associated with recurrent venous thromboembolism in elderly patients in a prospective multicenter cohort study. We genotyped the Factor V Leiden and the prothrombinG20210A mutation in 354 consecutive in- and outpatients aged ≥65 years with a first unprovoked venous thromboembolism from 9 Swiss hospitals. Patients and managing physicians were blinded to testing results. The outcome was recurrent symptomatic venous thromboembolism during follow-up. We examined the association between
Association of Factor V Leiden and ProthrombinG20210A Polymorphisms in Women with Recurrent Pregnancy Loss in Isfahan Province, Iran Maternal thrombophilia has been identified as a risk factor for recurrent pregnancy loss (RPL). The aim of this study was to investigate the association between prothrombinG20210A and factor V Leiden (FVL) polymorphisms in women with RPL and a control group of parous women in Isfahan province of Iran. We studied 250 women with idiopathic RPL and 116 control cases. Prothrombin and FVL different genotypes were determined using polymerase chain reaction and reverse hybridization technique. The frequencies of heterozygous mutation prothrombinG20210A were 6% and 0.9%, respectively ( = 0.025), in cases compared to the control group. The frequencies of homozygous
Upper Limb Deep Vein Thrombosis in Patient with Hemophilia A and Heterozygosity for ProthrombinG20210A: A Case Report and Review of the Literature Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombinG20210A mutation. Treatment
Factor V Leiden, ProthrombinG20210A and MTHFR mutations and Stillbirth: The Stillbirth Collaborative Research Network. An evaluation for heritable thrombophilias is recommended in the evaluation of stillbirth. However, the association between thrombophilias and stillbirth remains uncertain. We sought to assess the association between maternal and fetal/placental heritable thrombophilias and stillbirth in a population-based, case-control study in a geographically, racially, and ethnically diverse population. We conducted secondary analysis of data from the Stillbirth Collaborative Research Network, a population-based case-control study of stillbirth. Testing for factor V Leiden, prothrombinG20210A, methylene tetrahydrofolate reductase C677T and A1298C, and plasminogen activating inhibitor
Tobacco smoking strongly modifies the association of prothrombinG20210A with undetermined stroke: Consecutive survivors and population-based controls. Due to contradictory results of previous studies evaluating the association between ischemic stroke (IS) and thrombophilic polymorphisms, their routine screening in IS patients, particularly those older than 60 years, is not recommended. We
Cerebral venous sinus thrombosis in heterozygous prothrombinG20210A mutation in Egyptian child, with an excellent outcome Prothrombin gene G20210A mutation is a risk factor for the development of deep vein thrombosis. We present a 6-year-old Egyptian boy who had vomiting associated with headache and dizziness. His conscious level was normal, with neither focal neurological signs nor papilledema
Circulating microparticles in carriers of prothrombinG20210A mutation. Factor V Leiden (FVL) and prothrombin gene mutation G20210A (PTM) are the two most common genetic polymorphisms known to predispose carriers to venous thromboembolism (VTE). A recent study in FVL carriers showed that circulating levels of microparticles (MP) may contribute to their thrombogenic profile. To further elucidate
Influence of proband's characteristics on the risk for venous thromboembolism in relatives with factor V Leiden or prothrombinG20210A polymorphisms. In family studies, the risk for venous thromboembolism (VTE) in relatives with factor V Leiden (FVL) or G20210A prothrombin (PT20210A) gene polymorphisms may differ according to genotype and clinical presentation of the proband. To address
,screening for hereditary thrombophilia is generally not recommended to determine duration ofanticoagulation. However, if a patient is known to have antithrombin, protein C or protein S deficiencyor is homozygous or compound heterozygous for factor V Leiden or prothrombinG20210A with ahistory of VTE, the risk of recurrent VTE is higher and the patient may be a candidate for indefiniteanticoagulant therapy of the commonhereditary thrombophilia conditions (i.e. heterozygosity for factor V Leiden or prothrombinG20210A)does not appear to be a clinically important risk factor for recurrence of VTE either during or afteranticoagulant therapy. A positive family history alone does not increase the risk of recurrent VTE.Presence of an inferior vena cava filter: The presence of an inferior vena cava filter (IVF) alone shouldnot
factor V R506Q (Factor V Leiden) and prothrombinG20210A. Thromb Res. 2019;182:75-78.MacCallum P, et al. Diagnosis and management of heritable thrombophilia. BMJ 2014;349:g4387:1-9.Mahmoodi BK, et al. Association of Factor V Leiden with subsequent atherothrombotic events: A GEMIUS-CHD study of individual participant data. Circulation. 2020;142:546–555. 4 of 4Meijer K, Schulman S. The absence of 'minor complications? Aprospective cohort study. J Thromb Haemost. 2014;12(4):469-478.Segal JB, et al. Predictive value of Factor V Leiden and prothrombinG20210A in adults with venousthromboembolism and in family members of those with a mutation: a systematic review. JAMA2009;301(23):2472-2485.Stevens SM, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. JThromb Thrombolysis
risk of thrombosis recurrence in patients with homozygous and compound heterozygous factor V R506Q (Factor V Leiden) and prothrombinG20210A. Thromb Res. 2019;182:75-78. MacCallum P, et al. Diagnosis and management of heritable thrombophilia. BMJ 2014;349:g4387:1-9. Meijer K, Schulman S. The absence of 'minor' risk factors for recurrent venous thromboembolism: a systematic review of negative Thrombosis Canada Page 4 of 4 Segal JB, et al. Predictive value of Factor V Leiden and prothrombinG20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA 2009;301(23):2472-2485. Stevens SM, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis 2016;41(1):154-164. van Vlijmen EF, et
thrombophilia is generally not recommended to determine duration of anticoagulation. However, if a patient is known to have antithrombin, protein C or protein S deficiency or is homozygous or compound heterozygous for factor V Leiden or prothrombinG20210A with a history of VTE, the risk of recurrent VTE is higher and the patient may be a candidate for indefinite anticoagulant therapy. Consultation thrombophilia conditions (i.e. heterozygosity for factor V Leiden or prothrombinG20210A) does not appear to be a clinically important risk factor for recurrence of VTE either during or after anticoagulant therapy. A positive family history alone does not increase the risk of recurrent VTE. • Presence of an inferior vena cava filter: The presence of an inferior vena cava filter (IVF) alone should