Low Prevalence Of Factor Research Articles

Lack of Association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T Mutations, and Early Recurrent Pregnancy Loss in a Group of Sudanese Women

BACKGROUND: Recurrent pregnancy loss is classically defined as the occurrence of three or more consecutive pregnancy loss. Recurrent pregnancy loss affects from 1-5% of the reproductive age couples. This diagnosis is both emotionally challenging and confusing for most couples, as the definitive diagnosis using conventional evaluations is found in fewer than half of the couples experiencing repeated loss.
 AIM: The purpose of this study was to define the association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T mutations and recurrent pregnancy loss in a group of Sudanese women.
 MATERIALS AND METHODS: This a retrospective analytical case control study was carried out at Omdurman Maternal Hospital, Sudan between July 2013 to July 2015. Consent was obtained from the ethical committee of the Faculty Research Board and Hospital of Omdurman Maternity Hospital (Sudan). The study included a hundred pregnant females with a history of recurrent spontaneous abortion as the (case group) and ninety-five healthy reproductive Sudanese women as the (control group). The data was collected with the help of a structured questionnaire and direct interview to collect information. Identification of point mutation in factor V Leiden G1691A, prothrombin G20210A and MTHF C677T gene by polymerase chain reaction was performed. The odds ratio and the 95% confidence interval (95%CI) were calculated for the presence of mutation case group and the control group and analyzed by SPSS program, version 17.0.
 RESULTS: The frequency of prothrombin G20210A, MTHFC677T, was low overall, except for the Factor V Leiden G1691A. The differences between patients and controls had no statistical significance (P- Value>0.05).
 CONCLUSION: Our study confirms the low prevalence of inherited thrombophilias in Sudanese populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in the Sudanse population.Therefore, we conclude that the low prevalence of Factor V Leiden, prothrombin G20210A and MTHFC677T in Sudanese women with RPL and does not play a role in the pathogenesis of recurrent pregnancy loss among our population.

Primary thrombophilia in Mexico: a single tertiary referral hospital experience.

Thrombophilia is a complex hypercoagulable state that increases the risk of thrombosis. Most reports in medical literature of the Mexican population with this disease lack statistical validity. Therefore, the aim of this study is to describe the prevalence of primary thrombophilia in a tertiary referral hospital in Mexico. This is a study of patients referred to our hospital because of a hypercoagulable state and who later on were diagnosed with primary thrombophilia. The thrombophilia workup included methylenetetrahydrofolate reductase (MTHFR) C677T, antiphospholipid antibodies, protein C, protein S, antithrombin, factor VIII, factor V Leiden, prothrombin mutation G20210A, activated protein C resistance, JAK2 V617F and homocysteine. Ninety-five individuals were tested. The MTHFR C677T polymorphism was the most frequent anomaly in 84.1% of the tested individuals. There was a relatively low prevalence of factor V Leiden (5.2%) and anticoagulant protein deficiency (8.3%). The MTHFR C677T polymorphism has a very high prevalence compared with the low prevalence of anticoagulant protein deficiency and factor V Leiden mutation in Mexicans.

Low prevalence of Factor V Leiden and the prothrombin G20210A mutation in a healthy population from the central-south region of Chile

Thrombosis is a result of the interaction between predisposing genetic polymorphisms and acquired risk factors. The two prothrombotic polymorphisms which are most frequently associated with thrombosis are factor V (FV) Leiden and the prothrombin (PT) G20210A mutation. The objective of this work was to investigate the prevalence of both factors in the central-south region of Chile. Determination of the frequency was carried out by means of a genetic analysis of 1200 healthy, non-native individuals. The mutation of FV Leiden was found in 1.25% of the population and the PT G20210A mutation in 1.33%. None of the individuals were homozygosis or had both polymorphisms. The prevalences of FV Leiden and the PT G20210A mutation are less common in the healthy population.

Screening With the Activated Protein C Resistance Assay Yields Significant Savings in a Patient Population With Low Prevalence of Factor V Leiden

Testing for factor V Leiden can be performed with a molecular assay or a test for activated protein C resistance. We noted that physicians in our institution tended to order the molecular test 80% of the time, but the prevalence of the mutation in our patient population was less than 10%. Consequently, we decided to introduce the activated protein C resistance assay in house and consistently use it for screening before the more expensive genetic test and to negotiate a discounted charge for the latter at a reference laboratory. After 6 years since these interventions began, the prevalence of an abnormal screening test result remained low (202/2,475 [8.2%]), even among white patients (10.9%). With this simple approach, the cost to test patients for factor V Leiden decreased by more than 90%, while the productivity of our laboratory increased by the introduction of a high-volume, fully automated assay.

Testing for factor V Leiden in patients with pulmonary or venous thromboembolism: a cost-effectiveness analysis.

Survivors of venous thromboembolism who have the factor V Leiden mutation have an increased risk of recurrent venous thromboembolism (VTE), but the cost-effectiveness of testing for factor VLeiden has not been assessed. We used a Markov state transition decision model to evaluate the cost-effectiveness of factor V Leiden testing and treatment strategies in survivors of VTE using a societal perspective for costs, effectiveness-measured in quality-adjusted life years, and incremental cost-effectiveness. Data sources included the English language literature using MEDLINE searches and bibliographies from selected articles. Cost estimates were derived from Medicare reimbursement and other sources. The analysis examined 3 hypothetical cohorts of 35-year-old women having suffered their 1st episode of VTE. Interventions included oral anticoagulant therapy for 6 months versus testing. Patients found to have the factor V Leiden mutation were then treated with either 3 years or lifelong oral anticoagulant therapy. Total costs for testing followed by 3 years of treatment were $9,676, whereas those for no testing were $10,392 and those for testing followed by lifelong therapy were $13,179. Testing followed by 3 years of treatment increased quality-adjusted life expectancy by roughly 0.15 years. In sensitivity analyses using a more plausible constant risk model of recurrent VTE, testing followed by lifelong anticoagulation was the favored strategy. However, the marginal cost-effectiveness ratio was highly dependent on the rate of recurrent VTE, the risk of major hemorrhage, prevalence of factor V Leiden, patient age, and the efficacy of anticoagulation therapy. Testing followed by lifelong anticoagulation is unlikely to be a cost-effective strategy in patient populations with a very low prevalence of factor V Leiden; for those with a lower risk for recurrent VTE, such as patients with a clear precipitant; or for patients with risk factors for bleeding while receiving anticoagulant therapy. The only patients for whom testing followed by lifelong anticoagulant therapy may be a reasonable strategy are those with no obvious precipitant for VTE (i.e., idiopathic VTE) who are at low risk for bleeding complications from oral anticoagulant therapy. These results highlight the need for further clinical investigation and the development of multivariable models predicting the risk of recurrent VTE based on factor V Leiden status, idiopathic versus precipitated VTE, treatment, and the coinheritance of other common thrombophilias, such as the prothrombin gene mutation.

Low Prevalence of Factor V:Q506 in 41 Patients with Isolated Pulmonary Embolism

In 70-80% of cases, pulmonary embolism is the consequence of lower extremity deep vein thrombosis. It has been demonstrated that the most common coagulation defect predisposing to venous thrombosis, resistance to activated protein C (APC), is not associated with an increased risk for pulmonary embolism, but the evidence was based on a functional assay to diagnose APC resistance and no information about concomitant deep vein thrombosis was provided. The aim of our study was to evaluate the prevalence of factor V:Q506, the gene mutation responsible for APC resistance, in patients with symptomatic non-fatal pulmonary embolism, whether or not associated with deep vein thrombosis. Patients with uncomplicated deep vein thrombosis and healthy controls were investigated as comparison groups. The overall prevalence of factor V:Q506 in 106 patients with pulmonary embolism was 12.3%, lower than that found in 106 patients with deep vein thrombosis (22.6%, OR 0.5, 95% CI 0.2-1.0) but significantly higher than that found in 212 healthy subjects taken as controls (2.8%, OR 4.8, 95% CI 1.8-13.0). In the 41 patients with isolated pulmonary embolism, i.e., without the presence of deep vein thrombosis, the prevalence was 4.9%, similar to that in controls (OR 1.8, 95% CI 0.3-9.6), while in the remaining 65 patients with pulmonary embolism associated with deep vein thrombosis the prevalence was significantly higher (16.9%, OR 5.5, 95% CI 2.0-15.8). In conclusion, the prevalence of factor V:Q506 is high in patients with pulmonary embolism associated with deep vein thrombosis, whereas in patients with isolated pulmonary embolism it is similar to that found in control subjects. This intriguing finding is of difficult interpretation and needs confirmation by further studies.