Abstract
Thrombophilia is a complex condition with an abnormal propensity for thrombosis. It is a multifactorial disease due to gene-gene and gene-environment interactions. Although there is a low prevalence of thrombophilic defects in the general population, studies have demonstrated that in 10–50% of unprovoked venous thrombosis and spontaneous abortions a thrombophilic factor can be identified. Testing for heritable thrombophilia is recommended in selected situations, such as the presence of thrombosis in patients below 50 years old, strong family history of recurrent thrombosis and women with early and late pregnancy losses. Studies include determination of antithrombin, proteins C and S, factor V Leiden, prothrombin mutation, lupus anticoagulant and antiphospholipid antibodies, among others abnormal results during screening procedures should always be confirmed. Testing for thrombophilia in first-degree relatives may assist in counselling regarding prophylactic measures and determining the anticoagulation strategy in patients with thrombosis
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