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thrombophilia

'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

Specific

thrombophilia due to histidine-rich glycoprotein deficiency thrombophilia due to thrombomodulin defect

General

hypercoagulability

References

  1. Wikipedia: Thrombophilia http://en.wikipedia.org/wiki/Thrombophilia
  2. 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: 19139080
  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. ARUP Consult: Hypercoagulable States - Thrombophilia The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hypercoagulable-states
  5. Hicks LK et al. The ASH Choosing Wisely Campaign: Five hematologic tests and treatments to question. Blood 2013 Dec 5; 122:3879. PMID: 24319155 http://bloodjournal.hematologylibrary.org/content/122/24/3879
  6. 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: 20128794
  7. Connors JM Thrombophilia Testing and Venous Thrombosis. N Engl J Med 2017; 377:1177-1187. September 21, 2017 PMID: 28930509 http://www.nejm.org/doi/full/10.1056/NEJMra1700365