Thrombophilia screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2] Jaspinder Kaur, MBBS[3]


In general, screening for inherited thrombophilias is controversial and should be performed in the appropriate clinical context.[1]According to the American Society of Hematology, screening for inherited thrombophilias is not recommended in adult patients with venous thrombosis in the setting of major transient risk factors which include surgery, trauma, or prolonged immobility.[2] However, patients who have significant risk factors, including a positive family history or concurrent treatment with hormonal therapies, should seek expert consultation.


  • The American Society of Hematology, British Committee for Standards in Hematology, and the British Society for Hematology have proposed the following recommendations for the screening of inherited thrombophilias as follows in Table 1:[1] [2] [3]
Screening recommended No screening recommended
  • Steps to be taken before pursuing the screening tests are as follows:
    • Family members and patients should receive genetic counseling before genetic testing; and informed consent must be obtained before conducting such testing procedures.
    • Counseling should include the following: [5]
      • Reasons for testing: Higher potential for avoiding the clinical thrombosis by risk factor modification or prophylactic measures for both the family member their children,
      • Reasons for not testing: Stigmatization and mental anguish, the potential effect on obtaining personal health insurance or employment, and the possibility of nonpaternity.


  1. 1.0 1.1 Middeldorp S (2011). "Evidence-based approach to thrombophilia testing". J Thromb Thrombolysis. 31 (3): 275–81. doi:10.1007/s11239-011-0572-y. PMC 3056012. PMID 21340752.
  2. 2.0 2.1 Hicks LK, Bering H, Carson KR, Kleinerman J, Kukreti V, Ma A; et al. (2013). "The ASH Choosing Wisely®campaign: five hematologic tests and treatments to question". Hematology Am Soc Hematol Educ Program. 2013: 9–14. doi:10.1182/asheducation-2013.1.9. PMID 24319155.
  3. Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M; et al. (2016). "Guidance for the evaluation and treatment of hereditary and acquired thrombophilia". J Thromb Thrombolysis. 41 (1): 154–64. doi:10.1007/s11239-015-1316-1. PMC 4715840. PMID 26780744.
  4. Trani, Jose L.; Lawson, Jeffrey H. (2007). "HYPERCOAGULABLE STATES ASSOCIATED WITH CHRONIC VENOUS INSUFFICIENCY": 55–65. doi:10.1016/B978-012373565-2.50009-9.
  5. Bank I, Scavenius MP, Büller HR, Middeldorp S (2004). "Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice". Thromb Res. 113 (1): 7–12. doi:10.1016/j.thromres.2004.02.002. PMID 15081560.

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