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]

Overview

According to the American Society of Hematology, screening for inherited thrombophilias in adult patients with venous thrombosis in the setting of major transient risk factors which include surgery, trauma, or prolonged immobility is not recommended.[1] However, given the associated risks for recurrent thrombosis, patients who have significant risk factors including a positive family history or concurrent treatment with hormonal therapies should seek expert consultation.

Screening

  • According to multiple expert panels (including the American Society of Hematology, British Commmittee for Standards in Hematology, and the British Society for Hematology), screening for inherited thrombophilias may be useful in the following situations:[2] [3]
    • Asymptomatic screening: First degree relatives of patients with homozygosity for factor V leiden, antithrombin deficiency, protein C or S deficiency and anticipated hormone therapy or pregnancy
    • Syptomatic screening (patients with acute thrombus) may be useful in patients with certain clinical presentations
  • Screening can be expensive, and are often performed at inappropriate times
  • Refer to thrombophilia laboratory findings for more information on specific screening tests

Screening for inherited thrombophilias is controversial and should be performed in the appropriate clinical context.[2]


References

  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.
  2. 2.0 2.1 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.
  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.

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