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Thrombophilia in children: who to test, how, when, and why?

Leslie Raffini1

  • 1Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. raffini@email.chop.edu

Hematology. American Society of Hematology. Education Program
|December 17, 2008
PubMed

Insights

Thrombophilia testing in children is debated. It may benefit adolescents with spontaneous thrombosis or those with a family history, but individualized decisions are crucial for optimal care.

Area of Science:

  • Pediatric Hematology
  • Thrombosis Research
  • Clinical Genetics

Background:

  • Pediatric thrombosis and thrombotic risk factors are increasingly recognized.
  • The clinical utility of thrombophilia testing in children is under debate.
  • Children with thrombosis represent a heterogeneous group requiring tailored approaches.

Purpose of the Study:

  • To evaluate the role and utility of thrombophilia testing in pediatric thrombosis.
  • To identify pediatric patient subgroups who may benefit most from thrombophilia testing.
  • To highlight the need for further research in pediatric thrombosis management.

Main Methods:

  • Review of current literature and clinical practices in pediatric thrombosis.
  • Analysis of existing data on inherited thrombophilic defects and their association with pediatric venous thromboembolism.
  • Discussion of clinical scenarios and decision-making for thrombophilia testing.

Main Results:

  • A causative role for inherited prothrombotic defects in many pediatric thrombotic events remains unestablished.
  • Adolescents with spontaneous thrombosis and teenage females with a family history are potential candidates for testing.
  • Some inherited thrombophilic defects are linked to recurrent venous thromboembolism in children, but management is undetermined.

Conclusions:

  • Thrombophilia testing in children should be individualized, particularly for asymptomatic patients with a family history.
  • Further prospective longitudinal studies are needed to determine outcomes and optimal management strategies for pediatric thrombosis.
  • The unique aspects of childhood thrombosis necessitate specialized research and clinical approaches.

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