Med. praxi. 2026;23(2):118-121 | DOI: 10.36290/med.2026.007

Current indications for testing for inherited

prof. MUDr. Petr Dulíček, Ph.D.
IV. interní hematologická klinika, Fakultní nemocnice a Lékařská fakulta v Hradci Králové

Venous thromboembolism is a multifactorial disease. Inherited thrombophilia is one of the causes resulting in increased risk of VTE and we have known about them for more than 60 years. Through a robust thrombophilia work-up at the end of millennium, the criteria for testing have significantly decreased in following years. It is associated with increased amount of robust data about clinical consequences of testing in the term of change patients´ management. In our text, we discuss current recommendations.

Keywords: venous, thrombophilic conditions, thromboembolism, thrombophilia, criteria for testing.

Received: March 9, 2026; Revised: March 9, 2026; Accepted: March 9, 2026; Published: April 28, 2026  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Dulíček P. Current indications for testing for inherited. Med. praxi. 2026;23(2):118-121. doi: 10.36290/med.2026.007.
Download citation

References

  1. Nordsrtöm M, Lindblad B, Bergvist D. A prospective study of the incidence of deep vein thrombosis with a defined urban population. J Intern Med. 1992;232:155-160. Go to original source...
  2. Wu O, Robertson L, Twaddle S. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol. 2005;131:80-90. Go to original source...
  3. Baglin T, Gray E, Greaves M. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149:209-20. Go to original source...
  4. Colucci G, Tsakiris DA. Thrombophilia Screening: Universal, Selected, or Neither? Clin App Thromb Hemost. 2017;23(8);893-899. Go to original source...
  5. Linnemann B. Testing for thrombophilia in patients with venous thromboembolism-why and whom to test? Dtsch Med wochenschr. 2016;141(20):1432-1435. Go to original source...
  6. Middeldorp S. Nieuwlaat R, Baumann KL. American Society of Hematology 2023 guidelines for management of venous thromboembolism: Thrombophilia testing. Blood Adv. 2023;7(22):7101-7138. Doi 10.1182/blood advances.2023010177. Go to original source...
  7. Arachchillage DJ, Mackillop L, Chandratheva A, et al. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol. 2022 Aug;198(3):443-458. doi: 10.1111/bjh.18239. Epub 2022 May 29. PMID: 35645034; PMCID: PMC9542828. Go to original source... Go to PubMed...
  8. Parakh RS, Sabath DE. Venous Thromboembolism: Role of the Clinical Laboratory in Diagnosis and Management. J Appl Lab Med. 2019;3(5):870-882. e-pub ahead of print 20180728. doi: 10.1373/jalm.2017.025734. Go to original source... Go to PubMed...
  9. Vrotniakaite-Bajerciene K, Tritschler T, Jalowiec KA. Adherence to thrombophilia testing guidelines and its influence on anticoagulation therapy: A single-center cross-sectional study. Thromb Res. 2023;223:87-94. e-pub ahead of print 20221215. doi: 10.1016/j.thromres.2022.12.001. Go to original source...
  10. Quenby S, Booth K, Hiller L. Heparin for women with recurrent miscarriage and inherited thrombophilia (ALIFE2): an international open-label, randomised controlled trial. Lancet 2023;402(10395):54-61. e-pub ahead of print 20230601. doi: 10.1016/s0140-6736(23)00693-1. Go to original source...
  11. Schulman S, Konstantinides S, Hu Y. Venous Thromboembolic Diseases: Diagnosis, Management and Thrombophilia Testing: Observations on NICE Guideline [NG158]. Thromb Haemost 2020;120(8):1143-1146. e-pub ahead of print 20200611. doi: 10.1055/s-0040-1712913. Go to original source... Go to PubMed...
  12. National Institute for Health and Care Excellence: Clinical Guidelines. In: Venous thromboembolic diseases: diagnosis, management and thrombophilia testing. National Institute for Health and Care Excellence (NICE) Copyright © NICE 2023.: London, 2023.
  13. Connors JM. Thrombophilia Testing and Venous Thrombosis. N Engl J Med. 2017;377(23):2298. doi: 10.1056/NEJMc1713797. Go to original source...
  14. Nicolaides AN, Fareed J, Spyropoulos AC. Prevention and management of venous thromboembolism. International Consensus Statement. Guidelines according to scientific evidence. Int Angiol. 2024;43(1):1-222. doi: 10.23736/s0392-9590.23.05177-5. Go to original source... Go to PubMed...
  15. Kearon C, Ageno W, Cannegieter SC. Categorization of patients as having provoked or unprovoked venous thromboembolism: guidance from the SSC of ISTH. J Thromb Haemost. 2016;14(7):1480-1483. e-pub ahead of print 20160607. doi: 10.1111/jth.13336. Go to original source...
  16. Lowe G, Wu O, van Hylckama Vlieg A. Plasma levels of coagulation factors VIII and IX and risk of venous thromboembolism: Systematic review and meta-analysis. Thromb Res. 2023 Sep;229:31-39. doi: 10.1016/j.thromres.2023.06.026. Epub 2023 Jun 28. PMID: 37390526; PMCID: PMC10881212. Go to original source... Go to PubMed...
  17. Martinelli I, Mannucci PM, De Stefano V. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92:2353-2358. Go to original source...
  18. Simioni P, Sanson BJ, Prandoni P. Incidence of venous thromboembolism in families with inherited thrombophilia. Tromb Haemost. 1999;81:198-202. Go to original source...
  19. Christiaens L. Idiopathic venous thromboembolic disease. Risk factors for recurrence in 2006, Arch Mal Couvej Vaiss. 2007;100:133-138.
  20. Drbohlavová E, Gumulec J, Buliková A at al.: Interdisciplinární doporučení pro testování trombofilie. Transf Hematol dnes. 2025;2:132-136.




Medicine for Practice

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.