Many people with thrombophilia are asymptomatic; hereditary thrombophilia may, therefore, be diagnosed following routine tests. The most common symptoms of a hypercoagulable state are deep vein thrombosis (DVT) and pulmonary embolism (PE), which are referred to together as venous thromboembolism (VTE). Whether thrombophilia also increases the risk of arterial thrombosis is less well established.
Although many factors that are likely to enhance the risk of thrombosis have been identified, detailed laboratory investigations fail to detect abnormalities in at least 50% of patients who present with a history of thrombosis. In addition, testing for thrombophilia is controversial because the diagnosis of an underlying heritable thrombophilia in a patient with a VTE will not change the management, particularly in the acute setting.
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