The futility of thrombophilia testing.
There has been increasing recognition of various laboratory markers of thrombophilia that are associated with increased risk of thrombosis either through hereditary (especially Factor V Leiden, prothrombin G20210A mutation, and protein C, S and antithrombin deficiencies) and/or acquired means (e.g., antiphospholipid antibodies) over past decades. This has led to an explosion of clinical requests for these markers, that has now become virtually uncontrolled, and seemingly inclusive of everyone who has had a thrombotic event. Although these haemostasis-related defects should be assessed in selective cases, the overuse (or misuse) of testing causes serious adverse outcomes and leads to the conclusion that, in general, testing for thrombophilia is futile.
Emmanuel J
EJ
Favaloro
D020152:Antithrombin III Deficiency / Q000235:genetics; D019411:Clinical Laboratory Techniques; D005165:Factor V / Q000235:genetics; D006801:Humans; D020151:Protein C Deficiency / Q000235:genetics; D018455:Protein S Deficiency / Q000235:genetics; D019851:Thrombophilia / Q000175:diagnosis* / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V