Skip to main content

Thrombophilia Testing

  • Chapter
  • First Online:
Anticoagulation Therapy
  • 1958 Accesses

Abstract

Hypercoagulable testing is an area of clinical medicine fraught with misconception and misunderstanding. We all desire to provide our patients with the best possible diagnosis and understanding of their medical condition. However, laboratory testing for thrombophilia is overused, frequently misunderstood, and in many cases ordered without a good understanding of the results. Laboratory testing for thrombophilia may be affected by many patient-related, therapy-related, and laboratory-related factors. An understanding of these influences will lead to a better understanding of when testing may be warranted. The diagnosis of a thrombophilic state may impact future care and decisions on anticoagulation and periprocedural or peripartum care. In addition, overuse and inappropriately timed hypercoagulable testing can impact the cost of care, length of stay, and immediate as well as long-term anticoagulation decisions. The savvy practitioner should seek to gain an understanding of the pearls and pitfalls of thrombophilia testing. This chapter will strive to help determine the optimal tests, timing of testing, and impact of hypercoagulable testing for patients with venous and arterial thromboembolism.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. American Society of Hematology. Ten Things Physicians and Patients Should Question. http://www.choosingwisely.org/societies/american-society-of-hematology/.

  2. Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost. 2015;114:885–9.

    Article  PubMed  Google Scholar 

  3. Heit JA. Epidemiology of venous thromboembolism. Nat Rev Cardiol. 2015;12(8):464–74.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Morange PE, Tregouet DA. Current knowledge on the genetics of incident venous thromboembolism. J Thromb Haemost. 2013;11(suppl 1):111–21.

    Article  PubMed  Google Scholar 

  5. Heit JA, Ashrani A, Crusan DJ, McBane RD, Petterson TM, Bailey KR. Reasons for the persistent incidence of venous thromboembolism. Thromb Haemost. 2017;117(2):390–400.

    Article  PubMed  Google Scholar 

  6. Heit JA, Spencer FA, White RH. The epidemiology of venous thromboembolism. J Thromb Thrombolysis. 2016;41:3–14.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Khor B, Van Cott EM. Laboratory testing for antithrombin deficiency. Am J Hematol. 2010;85:947–50.

    Article  PubMed  Google Scholar 

  8. Khor B, Van Cott EM. Laboratory tests for protein C deficiency. Am J Hematol. 2010;85:440–2.

    Article  PubMed  Google Scholar 

  9. Eby C. Laboratory aspects of Thrombophilia testing. In: Kotte-Marchant K, editor. An algorithmic approach to hemostasis testing. Northfield: College of American Pathologists (CAP); 2008.

    Google Scholar 

  10. Marlar RA, Gausman JN. Protein S abnormalities: a diagnostic nightmare. Am J Hematol. 2011;86:418–21.

    Article  CAS  PubMed  Google Scholar 

  11. Van Cott EM, Khor B, Zehnder JL. Factor V Leiden. Am J Hematol. 2016;91:46–9.

    Article  PubMed  Google Scholar 

  12. Kadauke S, Khor B, Van Cott EM. Activated protein C resistance testing for factor V Leiden. Am J Hematol. 2014;89:1147–50.

    Article  CAS  PubMed  Google Scholar 

  13. Castaman G, Faioni EM, Tosetto A, Bernardi F. The factor V HR2 haplotype and the risk of venous thrombosis: a meta-analysis. Haematologica. 2003;88:1182–9.

    PubMed  Google Scholar 

  14. Cosmi B, Legnani C, Cini M, Favaretto E, Palareti G. D-dimer and factor FVIII are independent risk factors for recurrence after anticoagulation withdrawal for a first idiopathic deep vein thrombosis. Thromb Res. 2008;122:610–7.

    Article  CAS  PubMed  Google Scholar 

  15. Jenkins VP, Rawley O, Smith OP, O’Donnell JS. Elevated factor VIII levels and risk of venous thrombosis. Br J Haematol. 2012;157:653–66.

    Article  CAS  PubMed  Google Scholar 

  16. Cushman M, O’Meara ES, Folsom AR, Heckbert SR. Coagulation facotes IX through XIII and the risk of future venous thrombosis: the longitudinal investigation of thromboembolism etiology. Blood. 2009;114:2878–83.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Key NS. Epidemiology and clinical data linking factors XI and XII to thrombosis. Hematology Am Soc Hematol Educ Program. 2014;2104(1):66–70.

    Google Scholar 

  18. Casini A, Neerman-Arbex M, Ariens RA, De Moerloose P. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost. 2015;13:909–19.

    Article  CAS  PubMed  Google Scholar 

  19. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid antibody syndrome (APS). J Thromb Haemost. 2006;4:295–306.

    Article  CAS  PubMed  Google Scholar 

  20. Salmon JE, de Groot PG. Pathogenic role of antiphospholipid antibodies. Lupus. 2008;17:405–11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Chaturvedi S, McCrae KR. The antiphospholipid syndrome still an enigma. Hematology Am Soc Hematol Educ Program. 2015;2015:53–60.

    PubMed  Google Scholar 

  22. Giannakopoulos B, Passam F, Ioannou Y, Krillis SA. How we diagnosis the antiphospholipid syndrome. Blood. 2009;113:985–94.

    Article  CAS  PubMed  Google Scholar 

  23. Giannakopoulos B, Passam F, Soheila R, Krillis SA. Current concepts on the pathogenesis of the antiphospholipid syndrome. Blood. 2007;109:422–30.

    Article  CAS  PubMed  Google Scholar 

  24. MaIntyre JA, Wagenknech DR, Waxman DW. Frequency and specificities if antiphospholipid antibodies (aPL) in volunteer blood donors. Immunobiology. 2003;207:59–63.

    Article  Google Scholar 

  25. Franchini M, Martinelli I, Mannucci PM. Uncertain thrombophilia markers. Thromb Haemost. 2016;115:25–30.

    Article  PubMed  Google Scholar 

  26. Eldibany MM, Caprini JA. Hyperhomocysteinemia and thrombosis: an overview. Arch Pathol Lab Med. 2007;131:872.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Teresa L. Carman .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Carman, T.L. (2018). Thrombophilia Testing. In: Lau, J., Barnes, G., Streiff, M. (eds) Anticoagulation Therapy . Springer, Cham. https://doi.org/10.1007/978-3-319-73709-6_16

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-73709-6_16

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-73708-9

  • Online ISBN: 978-3-319-73709-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics