Thrombophilia screening: Difference between revisions
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*'''Asymptomatic screening''': [[First degree relative]]s of patients with [[homozygosity]] for [[Factor V Leiden]], [[antithrombin deficiency]], [[Protein C deficiency|Protein C]] or [[Protein S deficiency]] and anticipated hormone therapy or pregnancy | *'''Asymptomatic screening''': [[First degree relative]]s of patients with [[homozygosity]] for [[Factor V Leiden]], [[antithrombin deficiency]], [[Protein C deficiency|Protein C]] or [[Protein S deficiency]] and anticipated hormone therapy or pregnancy | ||
*''Symptomatic screening''': Patients presenting with a first episode of acute [[thrombosis]]. | *'''Symptomatic screening''': Patients presenting with a first episode of acute [[thrombosis]]. | ||
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*Adult patients with venous [[thrombosis]] in the setting of major transient risk factors such as [[surgery]], [[trauma]], or prolonged [[immobility]]. | *Adult patients with venous [[thrombosis]] in the setting of major transient risk factors such as [[surgery]], [[trauma]], or prolonged [[immobility]]. | ||
Revision as of 19:59, 26 February 2021
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Thrombophilia Microchapters |
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Thrombophilia screening On the Web |
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American Roentgen Ray Society Images of Thrombophilia screening |
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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
- 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:[2] [1] [3]
| Screening recommended | No screening recommended |
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- 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.
- Deep venous thrombosis/chronic venous insufficiency: Despite the high incidence of thrombophilia in patients who present with a new deep venous thrombosis as well as in patients who ultimately progress to develop venous ulceration, prolonged anticoagulation is not recommended. Screening patients for thrombophilia conditions should be undertaken only under specific circumstances. Young patients (under 50) without any other identifiable risk factors, such as oral contraceptive use or recent surgery; patients with a family history of deep venous thrombosis; and patients with recurrent venous thrombosis should all receive screening for a hypercoagulable state should receive additional screening consideration. Patients who have more than one thrombophilia condition identified by screening may benefit from prolonged anticoagulation.
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.