Thrombophilia screening should be a personalized evaluation indicated only in selected patients with thromboembolism to estimate individual recurrence risk, rather than universal testing.
Thrombophilia screening should be a personalized, comprehensive clinical evaluation rather than universal genetic testing, targeted primarily at young patients with unprovoked VTE or strong family history.
Clinical thrombophilia is the consequence of multiple gene and/or environment interactions. Thrombophilia screening requires a targeted patient with specific indication, in which a finding would have implications. Carrying out a thrombophilia examination in the physician's practice is often a cause of uncertainty and concern. The concerns begin in choosing the right patient to be examined, are associated with the time of investigation, with the choice of analysis, the test-material and with the correct interpretation of the results. Difficulties, which can influence the results, can occur with both organization and blood sampling. As common for any analysis, pre-analytical, analytical and post-analytical factors should be considered, as well as the possibility of false positive or false negative results. Finally, recommendation of correct therapeutic and prophylactic measures for the patient and his relatives is an additional focus. In this article we want to provide-on the basis of the evidence and personal experience-the theory of thrombophilia-investigation, the indications for testing, as well as practical recommendations for treatment options.
Colucci et al. (Sat,) conducted a review in Venous thromboembolism (VTE) and Thrombophilia. Thrombophilia screening was evaluated. Thrombophilia screening should be a personalized evaluation indicated only in selected patients with thromboembolism to estimate individual recurrence risk, rather than universal testing.