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Thrombophilia testing in children: a 7 year experience
A Mahajerin1, P Obasaju, G Eckert
1Department of Pediatrics, Riley Hospital for Children at Indiana University Health, Indiana University School of Medicine, Indianapolis, Indiana.
Insights
Pediatric venous thromboembolism (VTE) testing shows low thrombophilia rates in both inpatient and outpatient settings. Protein C deficiency was more common in outpatients, while central lines were linked to less testing in inpatients.
Area of Science:
- Pediatric Hematology
- Thrombosis Research
- Clinical Diagnostics
Background:
- Increasing incidence of pediatric venous thromboembolism (VTE).
- Need to understand thrombophilia testing patterns in pediatric VTE cases.
- Evaluation of inpatient versus outpatient testing strategies.
Purpose of the Study:
- To examine thrombophilia testing results in children with VTE.
- To compare testing patterns between inpatient and outpatient pediatric VTE populations.
- To identify factors associated with thrombophilia testing in pediatric VTE.
Main Methods:
- Retrospective study of children (0-20 years) with VTE from Jan 2005 to Apr 2012.
- Inclusion criteria: VTE confirmed by imaging.
- Thrombophilia diagnosis based on specific laboratory and genetic markers.
Main Results:
- 392 pediatric VTE patients met inclusion criteria.
- 157/239 inpatients and all 153 outpatients underwent thrombophilia testing.
- Protein C deficiency was significantly higher in outpatients; central venous lines were associated with less testing in inpatients.
Conclusions:
- Pediatric VTE populations exhibit low overall thrombophilia rates.
- Testing patterns and specific deficiencies vary between inpatient and outpatient settings.
- Further research is needed to define optimal thrombophilia testing in pediatric VTE.
Background:
Incidence of venous thromboembolism (VTE) in children is reported to be increasing. We examined thrombophilia testing results in children with VTE that presented in inpatient and outpatient settings to explore patterns of thrombophilia testing.
Patients/Methods:
Children, ages 0-20 years with VTE seen at our institution from Jan 2005 to Apr 2012 were studied retrospectively. All patients with VTE confirmed by imaging were eligible and the presence of significant risk factors was evaluated. Thrombophilia was diagnosed if >1 tests confirmed: persistently low protein C (PC), protein S (PS), and antithrombin (AT) following VTE resolution, persistent antiphospholipid antibodies (APA) positivity >12 weeks from first test, factor V Leiden (FVL) and prothrombin mutation (PTm) hetero- or homozygosity, elevated plasminogen activator inhibitor (PAI-1) levels with 4G/5G or 4G/4G polymorphisms, methylene tetrahydrofolate reductase (MTHFR) polymorphisms with elevated fasting homocysteine levels.
Results:
Three hundred ninety-two patients met inclusion criteria. At least one test was ordered in 157/239 inpatients. All 153 outpatients had >1 test ordered. Thrombophilia rate differences between inpatients and outpatients did not reach statistical significance except for PC deficiency, which was significantly higher in outpatients. Of inpatients, central venous line (CVL) was significantly associated with not having tests done (P < 0.0022).
Conclusions:
This study of pediatric VTE demonstrated a low thrombophilia rate in both inpatient and outpatient populations. The role of testing in other pediatric patients should be further explored.
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