Inherited thrombophilia in childhood arterial stroke: data from Lebanon

Samar A Muwakkit1, Marianne Majdalani, Roula Hourani

  • 1Department of Pediatrics and Adolescent Medicine, Hematology Oncology Service, American University of Beirut Medical Center, Beirut, Lebanon.

Pediatric Neurology
|August 10, 2011
PubMed

Insights

Factor V Leiden is a significant genetic risk factor for pediatric arterial ischemic stroke. Methylenetetrahydrofolate reductase (MTHFR) C677T mutation was common in children with recurrent strokes.

Area of Science:

  • Pediatric Neurology
  • Hematology
  • Genetics

Background:

  • Pediatric ischemic stroke leads to long-term cognitive and motor disabilities.
  • Thrombophilia, a condition of abnormal blood clotting, is increasingly recognized as a contributing factor.

Purpose of the Study:

  • To investigate the association between thrombophilia and arterial ischemic stroke in a pediatric cohort.
  • To identify specific genetic thrombophilia variants prevalent in children with stroke.

Main Methods:

  • Retrospective review of medical records for children diagnosed with arterial ischemic stroke.
  • Genetic testing for thrombophilia, including Factor V Leiden and MTHFR C677T variants.
  • Exclusion of patients with venous or perinatal stroke.

Main Results:

  • Factor V Leiden was significantly associated with pediatric arterial ischemic stroke (P < 0.001).
  • MTHFR C677T variant was prevalent in patients experiencing recurrent strokes.
  • 62.5% of patients had at least one genetic thrombophilia polymorphism.

Conclusions:

  • Factor V Leiden is a major genetic risk factor for pediatric arterial ischemic stroke.
  • MTHFR C677T mutations may be linked to stroke recurrence in children.
  • Genetic thrombophilia screening is important in evaluating pediatric stroke cases.

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