Čes-slov Pediat 2026, 81(3):155-157 | DOI: 10.55095/CSPediatrie2026/028
Guidelines for inherited thrombophilia testing in children
- 1 Klinika dětské hematologie a onkologie, Fakultní nemocnice Motol a Homolka, Praha
- 2 Oddělení dětské hematologie a biochemie, Fakultní nemocnice Brno
The incidence of thromboembolic disease in childhood is low compared to the adult population. Thrombophilia refers to factors that increase the risk of developing thrombosis. The most important factors in the development of thrombosis in children are acquired, with central venous catheters being the leading cause. In contrast, inherited thrombophilias play only a
minor role. Approved consensus guidelines based on published literature specify the indications for testing for inherited thrombophilias and the scope of such testing. Incorrectly indicated, performed, and/or interpreted testing may be misleading and potentially harmful.
Keywords: thrombophilia, inherited thrombophilia, thrombosis, childhood, indication, testing
Accepted: April 8, 2026; Published: July 1, 2026 Show citation
References
- van Ommen CH, Nowak-Göttl U. Inherited thrombophilia in pediatric venous thromboembolic disease: why and who to test. Front Pediatr 2017; 5: 50.
Go to original source... - Young G, Albisetti M, Bonduel M, et al. Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies. Circulation 2008; 118(13): 1373-82.
Go to original source... - Raffini L. Pediatric aspects of thrombophilia. In: Consultative Hemostasis and Thrombosis. 4th ed. Elsevier 2019: 266-272.
Go to original source... - Klaassen IL, van Ommen CH, Middeldorp S. Manifestations and clinical impact of pediatric inherited thrombophilia. Blood 2015; 125(7): 1073-7.
Go to original source... - Revel-Vilk S, Chan A, Bauman M, Massicotte P. Prothrombotic conditions in an unselected cohort of children with venous thromboembolic disease. J Thromb Haemost 2003; 1(5): 915-21.
Go to original source... - Nowak-Göttl U, van Ommen H, Kenet G. Thrombophilia testing in children: what and when should be tested? Thromb Res 2018; 164: 75-78.
Go to original source...
Go to PubMed... - Raffini L. Thrombophilia in children: who to test, how, when, and why? Hematology Am Soc Hematol Educ Program 2008: 228-35.
Go to original source... - Khider L, Gendron N, Mauge L. Inherited thrombophilia in the era of direct oral anticoagulants. Int J Mol Sci 2022; 23(3): 1821.
Go to original source... - Blatný J. Kdy vyšetřovat vrozená trombofilní rizika u dětí? Čes-slov Pediat 2012; 67(1): 60-63.
- Trenor CC 3rd, Chung RJ, Michelson AD, et al. Hormonal contraception and thrombotic risk: a multidisciplinary approach. Pediatrics 2011; 127(2): 347-57.
Go to original source... - Thornburg CD, Dixon N, Paulyson-Nuñez K, Ortel T. Thrombophilia screening in asymptomatic children. Thromb Res 2008; 121(5): 597-604.
Go to original source...
This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.




