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Semin Thromb Hemost 2011; 37(7): 794-801
DOI: 10.1055/s-0031-1297170
© Thieme Medical Publishers

Thrombophilia in Childhood: To Test or Not to Test

C. Heleen van Ommen1 , Saskia Middeldorp2
  • 1Department of Paediatric Haematology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands
  • 2Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
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Publication History

Publication Date:
20 December 2011 (online)

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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