thrombophilia

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Introduction

'thrombo' = thrombosis + 'philia' - love

tendency for thrombosis/thromboembolism (see hypercoagulability)

Etiology

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

Laboratory

Management

More general terms

More specific terms

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: https://www.ncbi.nlm.nih.gov/pubmed/19139080
  3. 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. 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. 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
  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: https://www.ncbi.nlm.nih.gov/pubmed/20128794
  7. 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