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Thrombophilia in childhood: to test or not to test

C Heleen van Ommen1, Saskia Middeldorp

  • 1Department of Paediatric Haematology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands. c.h.vanommen@amc.nl

Seminars in Thrombosis and Hemostasis
|December 22, 2011
PubMed

Insights

Inherited thrombophilia, a genetic risk for blood clots, impacts children. This review examines the advantages and disadvantages of testing for inherited thrombophilia in pediatric patients.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Inherited thrombophilia is a genetic predisposition to venous thromboembolism.
  • It plays a role in pediatric thromboembolic disease.
  • Pediatric hematologists face increasing requests for thrombophilia testing in children with thrombosis or those from affected families.

Purpose of the Study:

  • To review the benefits of thrombophilia testing in children.
  • To outline the limitations of thrombophilia testing in childhood.
  • To discuss specific inherited thrombophilic disorders relevant to pediatric patients.

Main Methods:

  • Literature review of inherited thrombophilia testing in pediatric populations.
  • Analysis of current guidelines and clinical practices.
  • Discussion of common thrombophilic genetic factors (Factor V Leiden, Prothrombin mutation, AT, PC, PS deficiencies).

Main Results:

  • Testing can identify children at genetic risk for thrombosis.
  • Limitations include potential for overdiagnosis and psychological impact.
  • The clinical utility of testing in asymptomatic children is debated.

Conclusions:

  • Thrombophilia testing in children requires careful consideration of benefits and limitations.
  • Genetic testing for inherited thrombophilia in pediatric patients should be guided by clinical context.
  • Further research is needed to optimize testing strategies and management in childhood.

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