Abstract
Thrombophilia and thrombosis: Deep vein thrombosis and pulmonary embolism are two manifestations of the same process, venous thromboembolism, which is an important cause of morbidity and mortality. It requires early diagnosis and rapid initiation of anticoagulant treatment. It is a multifactorial disease in which genetic and environmental factors play a role. The tendency to develop thrombotic episodes is called thrombophilia and it is usually classified as congenital or acquired. The most relevant congenital thrombophilias are antithrombin, protein C, and protein S deficiencies; factor V Leiden mutation; and G20210A mutation in the prothrombin gene. Among the acquired conditions, antiphospholipid syndrome is of note. Currently, it is not considered appropriate to perform a thrombophilia study on all patients who have presented with thrombosis. Patients who would benefit from such a study must be carefully selected.
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