Laboratory Evaluation and Thrombophilia

Venous thromboembolism (VTE) is a multifactorial disease in which genetic and environmental risk factors interact putting patients at risk for thrombosis. A risk factor for thrombosis is termed thrombophilia which may be acquired (e.g. clinical circumstance, lupus anticoagulant) or inherited (e.g. factor V Leiden). Of the various presentations, VTE is the most common clinical presentation of thrombophilia. The presence of thrombophilia determines a patient's risk for venous thromboembolism which influences (primary and secondary) VTE prevention strategies. Multiple clinical factors affect results of laboratory testing of thrombophilia, thus results should be interpreted within the clinical context. Although the currently recognized risk factors provide estimates of risk for groups of patients, discovery of novel laboratory risk factors and integration with clinical risk factors may provide better models to risk stratify individual patients thus providing optimal prophylactic and therapeutic regimens.