thrombophilia
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Introduction
'thrombo' = thrombosis + 'philia' - love
tendency for thrombosis/thromboembolism (see hypercoagulability)
Etiology
- defect in the coagulation system
- thrombomodulin defect
Epidemiology
- 5-8% of the US population
- acquired thrombophilia much more common than inherited thrombophilia[3]
Pathology
- most individuals develop thrombosis only with additional risk factors
- acquired thrombophilia often associated with much greater risk of thrombosis than inherited thrombophilia[3]
Genetics
- may have 1st degree relative with thrombophilia
Clinical manifestations
- unprovoked venous thromboembolism
- thromboembolism while on oral contraceptives or while pregnant
- arterial thrombi
Laboratory
- see hypercoagulability
- testing not indicated in the setting of surgery, trauma, or prolonged immobility[5]
- most patients with venous thromboembolism do not require thrombophilia testing, since results will not affect management[7]
- serum homocysteine + antiphospholipid antibodies only for arterial thrombi[3]
- testing of family members indicated if coagulation defect identified
- see ARUP consult[4]
Management
- generally no treatment indicated
- anticoagulation if recurrent thromboses
More general terms
More specific terms
- thrombophilia due to histidine-rich glycoprotein deficiency
- thrombophilia due to thrombomodulin defect
References
- ↑ Wikipedia: Thrombophilia http://en.wikipedia.org/wiki/Thrombophilia
- ↑ Lijfering WM et al. Selective testing for thrombophilia in patients with first venous thrombosis: Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 2009 May 21; 113:5314. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19139080
- ↑ 3.0 3.1 3.2 3.3 Medical Knowledge Self Assessment Program (MKSAP) 14, American College of Physicians, Philadelphia 2006
Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022 - ↑ 4.0 4.1 ARUP Consult: Hypercoagulable States - Thrombophilia The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hypercoagulable-states
- ↑ 5.0 5.1 Hicks LK et al. The ASH Choosing Wisely Campaign: Five hematologic tests and treatments to question. Blood 2013 Dec 5; 122:3879. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24319155 <Internet> http://bloodjournal.hematologylibrary.org/content/122/24/3879
- ↑ Baglin T, Gray E, Greaves M et al Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010 Apr;149(2):209-20 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20128794
- ↑ 7.0 7.1 Connors JM Thrombophilia Testing and Venous Thrombosis. N Engl J Med 2017; 377:1177-1187. September 21, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28930509 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMra1700365