Role of Screening for Thrombophilia
In recent years, laboratory testing for thrombophilia has been performed on increasing numbers of patients. However, the benefits of thrombophilia screening remain controversial and it is not known whether they justify the potential drawbacks of testing, which include negative psychological effects, difficulties with insurability, bleeding risks with primary prophylaxis, additional medical expenditures, false reassurance from a negative test result, and the effect of incorporating this information into important life decisions including pregnancy, surgery and contraceptive choice.
Screening is only useful when results will affect management decisions and is not useful when treatment is indicated for other risk factors or there is no data to support intervention. The TREAT study found that if prophylaxis is prescribed to women who test positive for thrombophilia, selective screening based on personal and/or family history of VTE is more cost effective than universal screening in pregnant patients. However, a Cochrane review found no controlled clinical trials that compared the rate of recurrent VTE in patients tested for thrombophilia with that in patients not tested. Furthermore, it is not clear that stratifying the risk of recurrent VTE using thrombophilia testing significantly adds to the information provided by the clinical setting in which the initial event occurred.[10,57]
Given the above, the rationale for and potential benefits and drawbacks of screening should be discussed with the patient before testing is undertaken. Therefore, routine thrombophilia testing in young women with a history of VTE to determine the need for thromboprophylaxis during pregnancy is not recommended. Testing for thrombophilia may be indicated if there is a first-degree relative with a history of unprovoked or minimally provoked VTE at a young age, as affected women may receive postpartum prophylaxis at a minimum. Although screening for APLAs is recommended in women with a history of recurrent loss (Table 6), in the absence of evidence that women with APLA syndrome and a single late pregnancy loss, preeclampsia or fetal growth restriction benefit from treatment with antithrombotics, it is unclear whether women with these complications should also be screened for APLAs (Table 6). For similar reasons, it is suggested not to screen for inherited thrombophilia in women with a history of pregnancy complications (Table 6).
Expert Rev Hematol. 2013;6(3):287-300. © 2013 Expert Reviews Ltd.