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Thrombophilia in children with venous thromboembolic disease

Shoshana Revel-Vilk1, Gili Kenet

  • 1Pediatric Hematology/Oncology Unit, Hadassah-Hebrew University Medical Center, POB 12000, Jerusalem il-91200, Israel. shoshanav@hadassah.org.il

Thrombosis Research
|July 5, 2005
PubMed

Insights

Thrombophilia significantly contributes to childhood venous thromboembolic events (VTEs), with prevalence varying widely. Current guidelines recommend broad testing, but re-evaluating risk factors and prognostic value may refine future management strategies.

Area of Science:

  • Pediatric Hematology
  • Thrombosis and Hemostasis
  • Clinical Genetics

Background:

  • Childhood venous thromboembolic events (VTEs) are often linked to underlying conditions like central venous lines, cancer, and cardiac diseases.
  • The prevalence of thrombophilia in pediatric VTE cases shows extreme variation (10-78%) across different studies.
  • This variability likely stems from differences in patient populations and study methodologies.

Purpose of the Study:

  • To review the significance of thrombophilia in the development of VTE in children.
  • To discuss the implications of thrombophilia testing and its impact on long-term VTE management in pediatric patients.

Main Methods:

  • Literature review focusing on thrombophilia and childhood VTE.
  • Analysis of reported prevalence rates and influencing factors.
  • Discussion of current diagnostic and management guidelines.

Main Results:

  • Thrombophilia is a notable factor in childhood VTE, but its precise contribution is inconsistently reported.
  • Initial VTE management in children with thrombophilia generally mirrors that of non-thrombophilic patients, with exceptions for rare homozygous protein deficiencies.
  • The long-term therapeutic impact and prognostic value of thrombophilic markers in pediatric VTE remain unclear.

Conclusions:

  • Current guidelines advocate comprehensive thrombophilia screening for all children with VTE.
  • Re-evaluation of comorbid risk factors and the prognostic significance of thrombophilic markers is needed.
  • Future approaches to managing pediatric VTE may benefit from more individualized and less rigid treatment schemes based on a thorough risk assessment.

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