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Editor's Correspondence
August 12/26, 2002

Genetic Hypercoagulability Syndromes: Does Testing Really Matter?

Arch Intern Med. 2002;162(15):1784-1785. doi:

I read with interest the recent review by Dr Thomas about hypercoagulability syndromes.1 I would like to comment on the author's recommendations regarding genetic testing and on his suggested approach to treatment of hypercoagulability.

What is the value of genetic testing for the individual presenting with venous thromboembolism? Dr Thomas (and many other experts2,3) states that recurrent idiopathic thrombosis, young age, and a family history of thrombosis are indications for genetic testing. Patients with recurrent idiopathic thrombosis are at high risk of a new episode because the prior thromboses prove that they have a strong thrombotic tendency.4 The sixth American College of Chest Physicians (2000) guidelines for antithrombotic therapy recommend prolonged anticoagulation for such patients whether genetic test results are positive or negative.4 In other words, if the pretest probability of a recurrent event is very high in these patients, a negative genetic test result will not reduce significantly the posttest probability, whereas a positive test result will only confirm that the patient has hypercoagulability.

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