The futility of thrombophilia testing

Abstract

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 haemostasisrelated 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.

Aging Hemostasis: Changes to Laboratory Markers of Hemostasis As We Age—A Narrative Review

“…The assessment of thrombin generation is currently regarded as an useful tool for screening, diagnosis, and therapeutic monitoring of a variety of hemostatic disorders, both hemorrhagic and prothrombotic. 82 At variance with global coagulation assays such as the aPTT and the prothrombin time, or specific tests such as those used for the screening of thrombophilia, [83][84][85] thrombin generation is believed to more closely reflect an impairment between procoagulant and anticoagulant forces in vivo. 86 Thrombin generation also seems more sensitive to fluctuations of clotting function in a major area of clinical interest, that is the population of subjects with normal values for routine clotting tests.…”

Exploring the iceberg of inappropriateness in hemostasis testing

“…Several lines of evidence attest that inappropriate ordering of diagnostics testing may be as high as 70% in clinical practice, the largest part due to inadequate education, lack of reliable guidance in the form of guidelines or recommendations, and medical liability issues, with modest consciousness of the unfavorable consequences deriving from this unfortunate practice [6,7]. Inappropriate ordering of hemostasis tests not only may erode vast laboratory resources but can also generate tangible health risks, by increasing the likelihood of false-positive or false-negative results, triggering additional and often invasive investigations, or else deranging the managed care [8].…”

Thrombophilia testing. Useful or hype?

“…Irrespective of different reimbursement policies across various countries, laboratory testing still places a considerable economic burden on patients and healthcare system as a whole [8], and should hence be based on evidence of clinical efficacy (i.e., improving outcomes) rather than efficiency (i.e., diagnosing diseases). In this issue of the journal, we publish a double-edged sword debate about utility and futility of thrombophilia testing [9,10]. In this editorial, I will not anticipate the contents of the pro and the counter, but I wish to express some general considerations about the potential benefits and the tangible risks of thrombophilia screening.…”

“…However, there are several elements that support focused testing in selected categories of individuals. It is an analysis of these aspects that are raised by Massimo Franchini, who takes the case in favor of testing [9], and Emmanuel Favaloro, who instead highlights areas of uncertainty and raises reasonable drawbacks against testing [10].…”

“…Most of these conditions are clearly discussed by Franchini [9], as well as in a recent review of guidelines from Scientific Societies and Working Groups, authored by De Stefano and Rossi [12]. It is also noteworthy, however, that focused (or targeted) screening is nothing but foolproof, and there are additional actual risks of obtaining false-negative and false-positive results, as highlighted by Favaloro [10]. Beside obvious economic considerations in a world with limited resources, the consequences may be deleterious in either circumstance.…”