We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction.
We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent incident venous thromboembolism risk to carriers of the established factor V Leiden p.R506Q and prothrombinG20210A mutations.
Active cancer was associated with at increased risk for VTE recurrences (HR: 3.06; 95%CI: 1.14-8.17) and anaemia (HR: 4.11; 95%CI: 1.45-11.6) or abnormal prothrombin time (HR: 4.10; 95%CI: 1.68-10.1) were associated with at increased risk for major bleeding.
Other biomarkers reviewed, which did not consistently demonstrate significant associations with VTE included prothrombin fragments F1 + 2, factor VIII, protein C, protein S, von Willebrand antigen and activity, antithrombin, thrombin antithrombin complex, antiphospholopid antibody, plasminogen activator inhibitor, tissue factor pathway inhibitor and several variants associated with known hypercoagulable states (factor V Leiden, prothrombin gene variant, methylenetetrahydrofolate reductase variant).
Factor V Leiden and factor II c.*97G>A (formerly referred to as prothrombin 20210G>A) are the two most common genetic variants associated with venous thromboembolism (VTE).
Measurement of serum D-dimer, fibrin degradation product, thrombin/antithrombin III complex, and prothrombin fragment 1 + 2 levels may be useful for the early detection of VTE in patients with advanced pancreatic carcinoma.
The predictive value of factor V Leiden and the G20210Aprothrombin mutation regarding recurrent venous thromboembolism (VTE) is limited and does not influence subsequent patient management.
The child was also carrier of heterozygous prothrombinG20210A variant.Severe venous thromboembolism can occur in otherwise healthy children with complex inherited thrombophilia.
In this case-control study, we aimed to determine the frequency of prothrombinG20210A and factor V Leiden (FVL) G1691A polymorphisms and protein C, protein S, and antithrombin III deficiencies in the East Algerian population and to investigate whether these genetic factors are associated with VTE.
We studied 34 prothrombin mutation heterozygous carriers and sex- and age-matched 34 non-carriers, all at least three months since the first VTE episode, before and during treatment with rivaroxaban.
In patients with venous thromboembolism (VTE) and factor V Leiden (FVL) or prothrombin 20210G-A mutation (PTM), the influence of gender on outcome has not been consistently studied.
Weight loss, serous effusion, the absence of the EGFR mutation, poor performance status (PS), hypoalbuminemia, hyponatremia, long prothrombin time (PT), and elevated levels of C-reaction-protein (CRP) and D-dimer were found to be associated with an increased risk of VTE by univariate analyses.
In women ≥35 years (<35 years), the individual probability of gestational VTE was as follows: 0.7% (0.5%) for heterozygous <i>FVL</i>; 3.4% (2.2%) for homozygous <i>FVL</i>; 0.6% (0.4%) for heterozygous prothrombinG20210A; 8.2% (5.5%) for compound heterozygotes for <i>FVL</i> and prothrombinG20210A; 9.0% (6.1%) for antithrombin deficiency; 1.1% (0.7%) for protein C deficiency; and 1.0% (0.7%) for protein S deficiency.
Here, we describe a novel substitution affecting Arg596 of prothrombin molecule (Arginine596 to Tryptophan or p.Arg596Trp or Arg221aTrp in the chymotrypsinogen numbering system or prothrombin Padua 2) in 2 Italian families with venous thromboembolism.
Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE.
To conduct an economic analysis of risk assessment of VTE from the perspective of the Spanish National Health System with Thrombo inCode(®) (a clinical-genetic function for assessing the risk of VTE) versus the conventional/standard method used to date (factor V Leiden and prothrombinG20210A).
We hypothesized that primary VTE risk assessment can be improved by using genetic risk scores with more genetic markers than just FVL-rs6025 and prothrombin gene PT-rs1799963.
Under the hypothesis that thrombin generation might serve as an intermediate phenotype to identify genetic modulators of VTE risk, we enrolled 188 FV Leiden heterozygotes (11 with VTE) and determined the following parameters: thrombin generation in the absence and presence of activated protein C (APC); plasma levels of prothrombin, factor X, antithrombin, protein S and tissue factor pathway inhibitor; and the genotypes of 24 SNPs located in the genes encoding these coagulation factors and inhibitors.