Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study

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Ulrich C Klostermeier, Verena Limperger, Gili Kenet

  • 1Ulrike Nowak-Göttl, Center of Thrombosis & Hemostasis, Institute of Clinical Chemistry, Univ.Hospital Kiel, Arnold-Heller-Str. 3, building 17, 24105 Kiel, Germany,

Thrombosis and Haemostasis
|October 3, 2014
PubMed

Insights

Protein S deficiency (PSD) affects 8.2% of children with venous thromboembolism (TE). Early diagnosis and intervention are crucial for this high-risk population, especially for family members.

Area of Science:

  • Pediatric Hematology
  • Thrombophilia and Coagulation Disorders
  • Genetics of Thrombosis

Background:

  • Venous thromboembolism (TE) is a significant health concern in children, often linked to underlying genetic predispositions.
  • Protein S deficiency (PSD) is a recognized major risk factor for TE, necessitating further investigation into its prevalence and clinical impact in pediatric populations.

Purpose of the Study:

  • To determine the prevalence of Protein S deficiency (PSD) in a cohort of children diagnosed with venous thromboembolism (TE).
  • To describe the clinical presentation and thrombotic events associated with PSD in pediatric patients.
  • To evaluate the implications of PSD for affected families and recommend appropriate screening and management strategies.

Main Methods:

  • A cohort of 367 pediatric patients (age 0.1-18 years) with TE was recruited between July 1996 and December 2013.
  • Comprehensive thrombophilia screening, including assessment for Protein S deficiency (PSD), was performed on all participants.
  • Anamnestic data regarding personal and family history of thrombotic events were collected.

Main Results:

  • Protein S deficiency (PSD) was identified in 30 out of 367 pediatric patients (8.2%), originating from 27 families.
  • The mean age at the first TE onset was 14.5 years, with thrombotic locations including cerebral veins, calf veins, deep leg veins (DVT), pulmonary embolism, and purpura fulminans.
  • Concomitant risk factors for TE were present in 60% of patients with PSD. A second TE event occurred in siblings of 3 families (11.0%).

Conclusions:

  • The prevalence of Protein S deficiency (PSD) in children with symptomatic TE is significant (7.4% adjusted for family status).
  • Given the clinical implications for both patients and their families, routine thrombophilia testing is warranted in pediatric TE cases.
  • Further evaluation of medical and educational interventions for this high-risk population is recommended.

Keywords:
Protein S deficiencychildrengenetics

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