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Factor V Leiden and prothrombin gene G20210A mutation in children with cerebral thromboembolism
Mariana Bonduel1, Gabriela Sciuccati, Mirta Hepner
1Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. mbonduel@garrahan.gov.ar
Insights
This study found no significant link between factor V Leiden or prothrombin gene mutations and pediatric cerebral thromboembolism in Argentina. Further large-scale research is needed to confirm these findings in pediatric populations.
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Cerebral thromboembolism in children can have serious consequences.
- Genetic mutations like factor V Leiden (FVL) and prothrombin gene G20210A (PT20210A) are known risk factors for thrombosis in adults.
- The role of these mutations in pediatric cerebral thromboembolism, particularly in specific populations, requires further investigation.
Purpose of the Study:
- To investigate the association between FVL and/or PT20210A mutations and cerebral thromboembolism in Argentinean children.
- To compare the prevalence of these mutations in pediatric patients with arterial ischemic stroke (AIS) and cerebral sinovenous thrombosis (SVT) against age-matched controls.
Main Methods:
- Prospective study of 44 children with AIS and 23 with SVT from May 1992 to January 2002.
- Comparison of mutation frequencies with 102 age-matched controls.
- Analysis of odds ratios (OR) and 95% confidence intervals (95% CI) for FVL and PT20210A mutations.
Main Results:
- No significant association was found between FVL and AIS (OR 1.16; P=0.99).
- No PT20210A mutations were detected in children with AIS.
- In children with SVT, FVL (OR 2.27; P=0.99) and PT20210A (OR 4.6; P=0.3354) showed no statistically significant association.
- Other prothrombotic disorders were identified in 18% of children with cerebral thromboembolism lacking these specific mutations.
Conclusions:
- The study did not find a significant association between factor V Leiden and/or prothrombin gene G20210A mutations and cerebral thromboembolism in this cohort of Argentinean pediatric patients.
- While these mutations are established risk factors, their contribution to pediatric cerebral events in this population appears limited.
- Larger, multi-center prospective studies are recommended to establish definitive evidence in Argentinean pediatric populations.
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.