Laboratory Evaluation of Thrombophilia

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Venous thromboembolism (VTE) occurs typically in the veins of the lower extremities and/or as pulmonary embolism. There is a myriad of causes of VTE ranging from provoked causes (e.g., surgery, cancer) to unprovoked causes (e.g., inherited abnormalities) or multiple factors that combine to initiate the cause. Thrombophilia is a complex, multi-factorial disease that may result in VTE. The mechanism(s) and causes of thrombophilia are complex and not completely understood. In healthcare today, only some answers about the pathophysiology, diagnosis, and prevention of thrombophilia have been elucidated. The laboratory analysis for thrombophilia is not consistently applied, and has changed over time, but remains varied by providers and laboratories as well. Both groups must establish harmonized guidelines for patient selection and appropriate conditions for analysis of inherited and acquired risk factors. This chapter discusses the pathophysiology of thrombophilia, and evidence-based medicine guidelines discuss the optimum laboratory testing algorithms and protocols for selection and analyzing VTE patients to ensure a cost-effective use of limited resources.