Thrombophilia screening
|
Thrombophilia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Thrombophilia screening On the Web |
|
American Roentgen Ray Society Images of Thrombophilia screening |
|
Risk calculators and risk factors for Thrombophilia screening |
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
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.
Screening
- 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]
- According to the American Society of Hematology, British Committee for Standards in Hematology, and the British Society for Hematology, screening for inherited thrombophilias may be useful in the following situations:[1] [3]
- Asymptomatic screening: First degree relatives of patients with homozygosity for Factor V Leiden, antithrombin deficiency, Protein C or Protein S deficiency and anticipated hormone therapy or pregnancy
- Symptomatic screening- patients with acute thrombus
- Refer to thrombophilia laboratory findings for more information on specific screening tests
- Steps:
- Family members (and patients) should receive genetic counseling before genetic testing, and such testing should be performed only after informed consent is obtained.
- Counseling should include the reasons for testing, such as the potential for avoiding clinical thrombosis by risk factor modification or prophylaxis (both for the family member as well as his or her children), and the reasons for not testing, such as stigmatization and mental anguish, the potential effect on obtaining personal health insurance or employment, and the possibility of nonpaternity.
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ 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.