ABSTRACT
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.
KEYWORDS
Thrombophilia - venous thromboembolism - pediatrics
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C. Heleen van OmmenM.D. Ph.D.
Department of Paediatric Haematology, Emma Children's Hospital/Academic Medical Center
Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
eMail: c.h.vanommen@amc.nl
