Volumen: 17 # Number : Suplemento
Publication Date : Octubre Year: 2013
Evolution of thromb ophilia testing
Authors: S. Middeldorp, M. Coppens
Abstract: Thrombophilia can be identified in many patients presenting with venous thromboembolism (VTE). Whether the results of such tests help in the clinical
management of patients has not been settled. Thrombophilia testing in asymptomatic relatives may be useful in families with antithrombin, protein C or protein S deficiency, or homozygosity for factor
V Leiden, but is limited to women who intend to become pregnant or who would like to use oral contraceptives.
Careful counseling with knowledge of absolute risks helps patients make an informed decision
in which their own preferences can be taken into account. Patients who have had VTE and have thrombophilia are, at most, at a slightly increased risk for recurrence. In the absence of trials that compared
routine and prolonged anticoagulant treatment in patients testing positive for thrombophilia, testing
for such defects to prolong anticoagulant therapy
cannot be justified. Diagnosing antiphospholipid syndrome in patients with VTE and in women with recurrent miscarriage usually leads to a change in patient management, although the evidence to support
this is limited. Over the past half century there has been an increase in our knowledge and greater possibilities for genetic testing have become available.
Despite this, testing for thrombophilia serves only a limited purpose and should not be performed on a routine basis.
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