Consequences of thrombophilia screening for life quality in women before prescription of oral contraceptives and family members of VTE patients.

A large number of hereditary and acquired alterations in the coagulation system that are associated with an increased risk of venous thrombosis have been described. Screening for these thrombophilic defects has become particularly popular in women before the prescription of oral contraceptives. The relevance of the results with regard to the management of the patients remains, however, to be questioned. In a recent review of six articles that were aimed to determine the nature and extent of psychological impact of thrombophilia screening, no valid conclusions could be drawn about the psychological impact due to heterogeneity of the data and lack of methodological accuracy. We performed a questionnaire-based study in 247 women with and in 132 women without factor V Leiden who were referred for factor V Leiden testing before oral contraceptive intake. A large proportion (76%) of the women reported being emotionally disturbed by genetic testing. 16% of women with wildtype factor V were discouraged from OC use, while 3% of women with factor V Leiden were encouraged to take OC. This indicates that recommendations after testing are not consistently driven by the test result, which compromises the quality of patient care. Given the large number of women who are taking oral contraceptives unequivocal guidelines for counseling prior to their prescription are urgently needed. These guidelines should integrate the risks and benefits of oral contraceptives but also the impact of screening on quality of life and aspects of counselling.