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Interdisciplinary recommendations for thrombophilia testing
Authors: E. Drbohlavová 1; J. Gumulec 2; A. Buliková 3; P. Ďulíček 4; J. Hirmerová 5; R. Malý 6; E. Zápotocká 7; J. Blatný 8; J. Václavík 9; P. Kessler 10
Authors‘ workplace: Oddělení klinické hematologie Krajské nemocnice Liberec a. s. 1; Klinika hematoonkologie LF OU a FN Ostrava 2; Oddělení klinické hematologie LF MU a FN Brno 3; IV. interní hematologická klinika FN Hradec Králové 4; II. interní klinika LF UK a FN Plzeň 5; I. interní kardioangiologická klinika FN Hradec Králové 6; Klinika dětské hematologie a onkologie 2. LF UK a FN Motol, Praha 7; Oddělení dětské hematologie a bio chemie, FN Brno 8; Interní a kardiologická klinika FN Ostrava 9; Oddělení hematologie a transfuziologie Nemocnice Pelhřimov 10
Published in: Transfuze Hematol. dnes,31, 2025, No. 2, p. 132-136.
Category:
doi: https://doi.org/10.48095/cctahd2025prolekare.cz9Overview
In this interdisciplinary consensus of four medical societies dealing with thrombophilic disorders, we summarize the rules of diagnosis and care of patients with congenital or acquired thrombophilias, i.e. factors increasing the risk of venous thromboembolic disease. The primary goal is to standardize the care of these patients with respect to the rules of evidence-based medicine. The recommendations imply under which circumstances, in which clinical situations, for which patients and which tests it is useful to investigate which thrombophilias and when not. Despite the long history and very good availability of diagnostic tests for individual thrombophilias, no similar recommendation has been published in the Czech Republic.
Keywords:
Venous thromboembolism – arterial thrombosis – congenital and acquired thrombophilias – JAK2 mutation and PNH clone testing
Sources
1. Middeldorp S, Nieuwlaat R, Baumann Kreuziger L et al. American Society of Hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testing. Blood Adv 2023; 7 (22): 7101–7138. doi: 10.1182/bloodadvances.2023010177.
2. Arachchillage DJ, Mackillop L, Chandratheva A et al. Guidelines for thrombophilia testing: A British Society for Haematology guideline. Br J Haematol 2022; 198 (3): 443–458. doi: 10.1111/bjh.18239.
3. Parakh RS, Sabath DE. Venous thromboembolism: role of the clinical laboratory in diag - nosis and management. J Appl Lab Med 2019; 3 (5): 870–882. doi: 10.1373/jalm.2017. 025734.
4. Baglin T, Gray E, Greaves M et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010; 149 (2): 209–220. doi: 10.1111/j.1365-2141.2009.08022.x.
5. Vrotniakaite-Bajerciene K, Tritschler T, Jalowiec KA et al. Adherence to thrombophilia testing guidelines and its influence on anticoagulation therapy: a single-center cross-sectional study. Thromb Res 2023; 223 : 87–94. doi: 10.1016/j.thromres.2022.12.001.
6. Quenby S, Booth K, Hiller L et al. Heparin for women with recurrent miscarriage and inherited thrombophilia (ALIFE2): an international open-label, randomised controlled trial. Lancet 2023; 402 (10395): 54–61. doi: 10.1016/s0140-6736 (23) 00693-1.
7. Schulman S, Konstantinides S, Hu Y, Tang LV. Venous thromboembolic diseases: diagnosis, management and thrombophilia testing: observations on NICE guideline [NG158]. Thromb Haemost 2020; 120 (8): 1143–1146. doi: 10.1055/s-0040-1712913.
8. 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.
9. Connors JM. Thrombophilia testing and venous thrombosis. N Engl J Med 2017; 377 (23): 2298. doi: 10.1056/NEJMc1713797.
10. Nicolaides AN, Fareed J, Spyropoulos AC et al. 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.
11. Kearon C, Ageno W, Cannegieter SC et al. Categorization of patients as having provoked or unprovoked venous thromboembolism: guidance from the SSC of ISTH. J Thromb Haemost 2016; 14 (7): 1480–1483. doi: 10.1111/jth.13336.
12. Lowe G, Wu O, van Hylckama Vlieg A et al. Plasma levels of coagulation factors VIII and IX and risk of venous thromboembolism: systematic review and meta-analysis. Thromb Res 2023; 229 : 31–39. doi: 10.1016/j.thromres. 2023.06.026.
Do redakce doručeno dne: 23. 4. 2025.
Přijato dne: 9. 5. 2025.
Eva Drbohlavová
Oddělení klinické hematologie
Krajské nemocnice Liberec a. s.
Baarova 526 /15
460 01 Liberec
e-mail: eva.drbohlavova@nemlib.cz
Labels
Haematology Internal medicine Clinical oncology
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