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Thrombophilia in the young

U Nowak-Göttl1, K Kurnik, A Krümpel

  • 1Univ. Children Hospital, Pediatric Hematology and Oncology, Albert-Schweitzer-Str. 33, 48149 Münster, Germany. leagottl@uni-muenster.de

Hamostaseologie
|February 19, 2008
PubMed

Insights

Inherited thrombophilias (IT) increase the risk of venous thromboembolism (VTE) in children, both for initial onset and recurrence. Screening for IT is crucial for effective VTE management in pediatric patients.

Area of Science:

  • Pediatric Hematology
  • Thrombosis and Hemostasis
  • Genetics

Background:

  • Venous thromboembolism (VTE) is increasingly diagnosed in children, often secondary to severe illnesses.
  • Inherited thrombophilias (IT) are recognized risk factors for VTE in adults and are investigated as contributing factors in pediatric VTE.
  • Recurrence rates for VTE in children are approximately 3% in neonates and 8% in older children.

Purpose of the Study:

  • To review the impact of inherited thrombophilias (IT) on the early onset and recurrence of venous thromboembolism (VTE) in children.
  • To evaluate the clinical significance of detecting IT in pediatric VTE cases.
  • To highlight the importance of a pediatric thrombophilia screening program.

Main Methods:

  • Review of existing literature on inherited thrombophilias and pediatric VTE.
  • Analysis of statistically significant associations between specific IT traits and VTE onset/recurrence.
  • Calculation of absolute risk increases for VTE recurrence associated with various IT conditions.

Main Results:

  • Statistically significant associations were reported between IT traits (Factor V G1691A, Factor II G20210A, Protein C, Protein S, Antithrombin deficiency, elevated Lipoprotein (a)) and VTE onset.
  • Significant associations with recurrent VTE were found for Protein S deficiency, Antithrombin deficiency, Factor II variant, and combined IT.
  • Absolute risk increase for VTE recurrence ranged from 9.8% (Factor II variant) to 29% (combined IT and Protein S deficiency).

Conclusions:

  • Detection of inherited thrombophilias is clinically meaningful in children with VTE.
  • A pediatric thrombophilia screening program is important for identifying children at higher risk of VTE.
  • Treatment algorithms for pediatric VTE should consider the presence of IT.

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