Thrombophilia and first arterial ischaemic stroke: a systematic review

S Haywood1, R Liesner, S Pindora

  • 1Neurosciences Unit, Institute of Child Health, University College, London, UK.

Insights

Thrombophilia, or blood clotting disorders, are more common in children experiencing their first arterial ischemic stroke (AIS). Protein C deficiency and MTHFR C677T mutations showed significantly higher prevalence in these pediatric patients.

Area of Science:

  • Pediatric Neurology
  • Hematology
  • Genetics

Background:

  • Arterial ischemic stroke (AIS) in children is a significant concern.
  • Thrombophilia, a predisposition to blood clots, is a suspected risk factor for AIS.
  • Understanding the prevalence of specific thrombophilic conditions in pediatric AIS is crucial for risk assessment.

Purpose of the Study:

  • To systematically review the literature on the prevalence of thrombophilia in children with a first arterial ischemic stroke (AIS).

Main Methods:

  • Systematic review of case-control studies.
  • Included data on protein C, S, and antithrombin deficiencies, activated protein C resistance (APCr), elevated homocysteine, Factor V 1691 GA, Prothrombin 20210GA, and MTHFR C677T mutations.
  • Meta-analyses were performed to calculate pooled odds ratios (OR).

Main Results:

  • 18 studies met inclusion criteria, analyzing 3235 patients and 9019 controls.
  • Significantly higher prevalence of protein C deficiency (OR 6.49) and MTHFR C677T mutation (OR 1.70) in children with AIS compared to controls.
  • Other factors like protein S deficiency, AT deficiency, APCr, FV1691 GA, PT20210GA, and elevated homocysteine were also more common but not statistically significant.

Conclusions:

  • Protein C deficiency and MTHFR C677T mutation are significantly associated with first arterial ischemic stroke in children.
  • Further research is needed to establish the prognostic and recurrence implications of thrombophilia in pediatric AIS.
  • Clinical recommendations for investigation and treatment require further evidence.
Abstract

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