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Manifestations and clinical impact of pediatric inherited thrombophilia

Irene L M Klaassen1, C Heleen van Ommen2, Saskia Middeldorp3

  • 1Department of Pediatric Hematology, Emma Children's Hospital Academic Medical Center, and Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Blood
|January 8, 2015
PubMed

Insights

Pediatric venous thromboembolic disease (VTE) often results from multiple factors, including inherited thrombophilic disorders. This review examines the role of these genetic conditions in childhood VTE and the implications of thrombophilia testing.

Area of Science:

  • Pediatric hematology
  • Thrombosis research
  • Genetics of coagulation

Background:

  • Pediatric venous thromboembolic disease (VTE) is a complex condition with multifactorial causes.
  • Clinical risk factors are identified in most children experiencing VTE.
  • Inherited thrombophilic disorders are recognized as significant contributors to the development of VTE in children.

Purpose of the Study:

  • To review the role of inherited thrombophilic disorders in the etiology of pediatric VTE.
  • To discuss the benefits and limitations associated with thrombophilia testing in pediatric VTE cases.

Main Methods:

  • Literature review of studies on pediatric VTE and inherited thrombophilia.
  • Analysis of the contribution of genetic factors to VTE in children.
  • Evaluation of current practices and evidence regarding thrombophilia testing.

Main Results:

  • Inherited thrombophilic disorders are a key, though not exclusive, factor in pediatric VTE.
  • Thrombophilia testing can identify genetic predispositions but has limitations in guiding clinical management.
  • The multifactorial nature of pediatric VTE necessitates consideration of both clinical and genetic risk factors.

Conclusions:

  • Inherited thrombophilic disorders play a crucial role in the pathogenesis of pediatric VTE.
  • The utility of routine thrombophilia testing in all pediatric VTE cases requires careful consideration of its benefits and limitations.
  • A comprehensive approach integrating clinical assessment and genetic evaluation is essential for managing pediatric VTE.

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