The clinical management of individuals with hereditary hypercoaguable disorders has evolved from initial broad recommendations of lifelong anticoagulation after first event of venous thromboembolism to a more intricate individualized risk-benefit analysis as studies have begun to delineate the complexity of interactions of acquired and hereditary factors which determine the predilection to thrombosis. The contribution of thrombophilic disorders to risk of thrombotic complications of pregnancy, organ transplantation, central venous catheter and dialysis access placement have been increasingly recognized. The risk of thrombosis must be weighed against risk of long-term anticoagulation in patients with venous thromboembolism. Thrombophilia screening in select populations may enhance outcome.
Initial DecisionsThe clinical management of individuals with hereditary hypercoagulable disorders has evolved from initial broad recommendations of lifelong anticoagulation after first event of venous thromboembolism (VTE) to a more intricate, individualized risk-benefit analysis as the complexity of interactions of acquired and hereditary factors that determine the predilection to thrombosis are now recognized. Important behind stratifying risk of recurrent events is the necessity of correctly identifying hereditary thrombophilic disorders, especially in circumstances in which laboratory results, e.g., mildly low antithrombin III (ATIII) or protein S levels, may be more indicative of a temporary acquired deficiency. The relevance of thrombophilic testing is debated, but most clinicians agree that prothrombotic assessment should be considered in individuals with unprovoked thrombosis at age less than 40 years, individuals who have had thrombosis at an unusual anatomic site or who have had repeated thromboses, or when the family history suggests multiple affected individuals. For review of the laboratory assessment of thrombophilia see references [1][2][3] . The following discussion is not meant to be comprehensive, but serves to highlight a few of the clinical management decisions important in the care of the thrombophilic patient. Therapeutic considerations involving individuals with antiphospholipid syndrome (APS) will be included where pertinent.
Duration of anticoagulant therapyThe decision to extend therapy beyond 6-12 months after an incident thrombotic event must be made on an individual basis. Patients with a transient risk factor such as oral contraceptive use, postsurgical state or limb immobilization have a low risk of recurrence of thrombosis once anticoagulation has been completed. (For review see 4,5 .) Identifying the individual with moderate to high risk of recurrent thrombosis is important to prevent the unnecessary risk of hemorrhage from long-term anticoagulation. From studies of patients with a first VTE (both with and without diagnosed hereditary thrombophilia), one third of patients with unprovoked VTE will have a reoccurrence over the next 10 years and 6% of patients with VTE develop postphlebitic syndrom...