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Management of inherited thrombophilia

INTRODUCTION

Inherited thrombophilia is a genetic tendency to venous thromboembolism. Factor V Leiden is the most common cause of the syndrome, accounting for 40 to 50 percent of cases. The prothrombin gene mutation, deficiencies in protein S, protein C, and antithrombin account for most of the remaining cases, while rare causes include the dysfibrinogenemias. The total incidence of an inherited thrombophilia in Caucasian subjects with a deep vein thrombosis ranges from 24 to 37 percent overall compared with approximately 10 percent in controls. (See "Overview of the causes of venous thrombosis", section on 'Inherited thrombophilia'.)

Management issues related to thromboembolism in patients with inherited thrombophilia (eg, factor V Leiden, prothrombin gene mutation, inherited deficiency of proteins S, C, or antithrombin) are reviewed here.  

The usefulness of screening for these conditions in various asymptomatic populations and the value of screening in patients presenting with thrombosis are discussed separately. (See "Screening for inherited thrombophilia in asymptomatic individuals" and "Evaluation of the patient with established venous thrombosis", section on 'Screening for inherited thrombophilia'.)

Separate topics discuss the presentation and diagnosis of specific thrombophilias. (See "Factor V Leiden and activated protein C resistance: Clinical manifestations and diagnosis" and "Antithrombin (AT III) deficiency: Clinical manifestations and diagnosis" and "Protein C deficiency: Clinical manifestations and diagnosis" and "Protein S deficiency: Clinical manifestations and diagnosis" and "Prothrombin gene mutation: Thrombotic risk and diagnosis".)

INITIAL TREATMENT OF ACUTE VENOUS THROMBOEMBOLISM

Overview of acute VTE treatment in inherited thrombophilias — The initial management of acute thromboembolic disease in patients with inherited thrombophilia (eg, factor V Leiden, prothrombin gene mutation, protein S deficiency) is not different from that in patients without a thrombophilic risk factor.

                   

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Literature review current through: Jun 2014. | This topic last updated: Mar 24, 2014.
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