Perfil de trombofilias hereditárias em pacientes com distúrbios trombóticos em uso de anticoagulante oral

• Autor(a) principal: Rocha, Viviane Ribeiro
• Data de Publicação: 2008
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Institucional da Universidade Federal Fluminense (RIUFF)
• Texto Completo: https://app.uff.br/riuff/handle/1/18278
• topic: Trombofilias; Antitrombina III; Fator V Leiden; Protrombina; MTFHR; Mutação G20210A no gene da protrombina; Thrombophilia; Antithombin III; Factor V Leiden; MTHFR; G20210A prothrombin mutation; CNPQ::CIENCIAS DA SAUDE::MEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICA

The word thrombophilia is used to describe an increased predisposition to the development of venous thrombosis and, occasionally, arterial thrombosis. It can be considered a multifatorial disorder in which congenital defects of anticoagulant and procoagulant factors are associated or not with acquired hematological abnormalities. Trombofilia is classified as hereditary when there is a genetic abnormality that predisposes vascular occlusion. Interaction with another component, wheter it is hereditary or acquired, is usually required to trigger the thrombotic episode. Hereditary thrombophilia are, most of the time, due to alterations related to physiological inhibitors of the coagulation (antithrombin, protein C, protein S and resistance protein c activated) or to mutations in coders gene of factors of coagulation (FV G1691A or Factor V Leiden and mutation G20210A of prothrombin). Thromboembolic disease has been target of intense researches since the end of the eighteenth century in the attemptive of establishing a reason for its incidence and its development. Patients with tromboembolic events secondary to atrial fibrililation, valvar disease or deep venous thrombosis are preventively treated with oral anticoagulant. These individuals may have hereditary thrombophilias, and the diagnosis definition plays an important role in counseling and family prevention. The main goal of this research was to evaluate the existence of thrombophilia in patients with thrombotics disturbed being treated with oral anticoagulant through molecular and biochemists tests.In this regard, we investigated the Antithrombin III deficiency, through the method chromogenic, and the frequency of the mutation G20210A of prothrombin and the mutation identified as factor V Leiden with PCR-RFLP. Besides these genetics variants, was used the PCR-RFLP method to verify the C677T polymorphism distribution in the gene of metylenetetrahidrofolate reductase. Antithrombina III deficiency was found in 10% of the surveyed patients and may have been of acquired nature. Leiden mutation and G20210A mutation had a frequency of 2,9 and 2,2%, respectively. The genotypic frequency of polymorphism C677T was 51,1% for the homozygote CC, 33,6% for the heterozygote CT, and 15,3% for the homozygote TT. The allele T frequency was 32,1%. Thrombophilia genetic inheritance did not contribute to the thrombotic disturbers that lead to the patients being treated with oral anticoagulant