Thrombophilia association with mutations in the gene encoding the V leiden factor, prothrombin and methyltetrahydrofolate reductase: description of two family cases

Abstract

Thrombophilia is a homeostatic balance alteration. It predisposes the formation of small thrombus at venous level and rarely in arteries. Thrombophilia have been classified into hereditary and acquired according to the origin of the predisposing factor, but it should be emphasized that thrombophilia is a multifactorial disease with the confluence of genetic and environmental factors that determine independently the clinical expression in each of the individuals. Two cases of young patients with thrombosis in lower limbs were analyzed. Both cases showed mutations in the gene encoding the V Leiden Factor G1691A, G20210A mutation of the Prothrombin (PT) and the C677T mutation in the methyltetrahydrofolate reductase gene (MTHFR), and these mutations were present either in two or one of them. In both situations a family study was recommended as part of a comprehensive analysis of the illness suffered especially as a preventive measure in the case of people who carry the mutation but have been asymptomatic so far. Family members with mutation are encouraged to maintain healthy lifestyles, and preventive measures with hormone therapy, surgery, long trips, pregnancy or other procoagulant situation.