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Abstract
Thrombophilia is the predisposition to venous thromboembolism and is caused by inherited and acquired factors, alone or in combination. With the discovery of APC resistance and the prothrombin gene mutation, more than half of all patients with clinical characteristics of thrombophilia are now diagnosed with an inherited disorder. The hypercoagulable work-up of patients with venous thromboembolism is important, because the causes can influence the duration and management of anticoagulation therapy, as well as affect other decisions regarding life and health issues. Hereditary thrombophilia testing is commonly performed in routine clinical practice for patients with VTE or asymptomatic individuals from families with a history of VTE. A number of studies have shown associations between genetic thrombophilic defects and VTE however, the clinical relevance of this association remains to be fully demonstrated. Recent data from the literature show rather convincingly that in general hereditary thrombophilia: