Defeito bioquÃmico em fator V, fator V de Leiden, em paciente jovem com trombose venosa profunda: estudo de caso

AUTOR(ES)
DATA DE PUBLICAÇÃO

2001

RESUMO

Inherited disturbances of the coagulation and fibrinolysis have been associated with thrombophilia. Trauma can be a precipitant of the deep vein thrombosis (DVT) in Factor V Leiden (FVL) carriers, the most common polymorphism cause of hereditary thrombophilia. The objective of this study was to analyze the case of a 15 years old boy, his parents and a control group. The boy at 13 presented DVT of the leg after exercise and trauma. His paternal grandfather died of thrombosis. His motherâs pregnancy was a normal, single birth delivery. The study included the following analysis: plasmatic Protein C (PC), Protein S (PS), Antithrombin III (AT III) activities, Activated Protein C Resistance, (APCR) and level of fibrinogen; searched FVL and Prothrombin Mutation FII G20210A.Commercials kits of IL (Spain), were utilized in an automation machine ACL 7000 for phenotype tests, and commercial kit for DNA assays, after their purification with a kit (GENTRA). The patient and his father were heterozygote for FVL and had APCR. His mother was unaltered. The other tests were normal. The prothrombin G20210A mutation did not identify in this family. The odds for developing thrombosis in FVL carriers is less than ATIII, PC or PS deficiency. However, FVL associated with other disturbances like FVR306Q or FII G20210A, acquired causes or environmental influences increase the risk of thrombosis. The patient had, at least, three factors of risk: FVL, forced exercise and trauma. His father has the FVL and strong family history. The recommendation consists of prophylaxis in risk situations and prospective follow up. The work indicated the necessity efforts in researches of hemostasis physiology, of genetics interactions in Brazilian gene pool with environmental variables, by regions of country, and their phenotype manifestations

ASSUNTO(S)

trombofilia hereditÃria trombose - estudo de caso genÃtica molecular proteÃnas trombose venosa profunda - pacientes jovens bioquÃmica bioquimica homeostase

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