Thrombophilia in childhood: to test or not to test?

Heleen van Ommen, Saskia Middeldorp

Research output: Contribution to journalArticleAcademicpeer-review

23 Citations (Scopus)


Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In children, inherited thrombophilia contributes to the development of pediatric thromboembolic disease. As a consequence, pediatric hematologists are increasingly requested to test thrombophilia in pediatric patients with thrombosis or asymptomatic children from thrombophilic families. This article reviews the benefits and limitations of testing for thrombophilic disorders, for example, factor V Leiden, prothrombin mutation, and deficiencies of antithrombin, protein C, or protein S in childhood.

Original languageEnglish
Pages (from-to)794-801
JournalSeminars in Thrombosis and Hemostasis
Issue number7
Publication statusPublished - 2011
Externally publishedYes


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