Study of hereditary thrombophilia (factor V leiden and protrombine 20210) in a population of women in fertile age who suffered a thromboembolic event studied in the tucumán public health laboratory

Abstract

to venous thromboembolism. 4 Both dominant abnormalities and milder combinations of defects in others may be clinically apparent with early age of onset, frequent recurrences, or a family history of thrombosis. The family history of first degree thrombosis or gestational complications associated with thrombophilia is also situations to be considered. The recurrence of a thrombotic event at 2years is 17% and increases to 30% at 8years. 5 Defects in the coagulation Factor V molecule have been shown to interfere with the inhibitory regulatory mechanism of activated Protein C, contributing to the pathogenesis of thrombosis. These defects in the Factor V molecule are associated with Abstract The thromboembolic event (TE) is a public health problem associated with significant morbidity and mortality, whose management includes the evaluation of the hypercoagulable state of the patient, especially in young individuals. The most frequent hereditar y thrombophilias are the Factor V Leiden polymorphism (FVL) and the Prothrombin 20210 In the general Caucasian European population, the prevalence of VLF is 3 to 7% and 1-4% for PT20210 and in patients with a first TE it is 20-50% for FVL and 5- 10% for PT20210. Studies performed in our country revealed 2.9% of heterozygous carriers for FVL and 2.6% for PT20210 in the general population, similar to that described for southern Europe, while other authors reported 10% and 6.3% for FVL and PT20210 re spectively in individuals with a first TE. The objective of this study was to investigate FVL and PT20210 in young women, of childbearing age, who suffered a TE without apparent risk factors and were referred to the Public Health Laboratory of Tucumán in 2015 and 2016. A descriptive observational study was conducted cross section in 39 women. It was detected that 2.5% (1/39) were heterozygous for FVL while 5.7% (2/39) for PT20210. Our study includes patients living in the province of Tucumán, where we obs erved that the prevalence of mutations was lower than those described in other regions of the country, possibly reflecting the different ethnic composition; nevertheless, these genetic alterations are present in our province and Scientific societies recomm end the study of these in selected patients. These women could face circumstantial prothrombotic risk factors such as pregnancy, trauma, prolonged immobilization, hormonal treatments that would predispose to a new TE, for which the investigation of these g enetic variants is necessary for their prevention.