Factor V Leiden and prothrombin gene G20210A mutation in children with cerebral thromboembolism

Am J Hematol. 2003 Jun;73(2):81-6. doi: 10.1002/ajh.10326.

Abstract

We investigated whether there is an association between factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) and cerebral thromboembolism in a pediatric Argentinean population. From May 1992 to January 2002, 44 consecutive children with arterial ischemic stroke (AIS) and 23 children with cerebral sinovenous thrombosis (SVT) were prospectively studied at a single center. The prevalence of both mutations was compared with a 102 age-matched controls. In children with AIS, the frequencies (patients vs. controls), odds ratio (OR), and 95% confidence interval (95% CI) for the presence of FVL were as follows: 2.3% vs. 2%, OR/95% CI, 1.16/0.2 to 13.2; P value = 0.99. No cases of PT20210A were found in this group. In children with SVT, the frequencies (patients vs. controls), OR, and 95% CI were as follows: FVL (4.3% vs. 2%, OR/95% CI, 2.27/0.22 to 6.2; P value = 0.99) and PT20210A (4.3% vs. 1%; OR/95% CI, 4.6/0.3 to 76.3; P value = 0.3354). One child with PT20210A also had an inherited protein C deficiency. In 12 (18%) out of the 67 children with cerebral thromboembolism, without the aforementioned mutations, other prothrombotic disorders were detected. Although a multi-center prospective study with a large number of Argentinean pediatric patients is needed to obtain considerable evidence, no association between factor V Leiden and/or prothrombin gene G20210A mutation and cerebral thromboembolism was found in this pediatric series.

MeSH terms

  • Adolescent
  • Brain Ischemia / complications
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Factor V / analysis*
  • Female
  • Gene Frequency
  • Humans
  • Infant
  • Intracranial Embolism and Thrombosis / genetics*
  • Male
  • Mutation*
  • Prospective Studies
  • Prothrombin / genetics*
  • Sinus Thrombosis, Intracranial / genetics
  • Stroke / etiology
  • Stroke / genetics

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin