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Factor V Leiden and prothrombin gene G20210A mutation in children with venous thromboembolism
Mariana Bonduel1, Mirta Hepner, Gabriela Sciuccati
1Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. mbonduel@garrahan.gov.ar
Insights
Factor V Leiden (FVL) mutation is a significant risk factor for pediatric venous thromboembolism (VTE) in Argentina. The prothrombin gene G20210A mutation (PT20210A) did not show a significant association with VTE in this population.
Area of Science:
- Pediatric Hematology
- Thrombosis and Hemostasis
- Genetic Risk Factors
Background:
- Venous thromboembolism (VTE) in children is a serious condition.
- Genetic mutations like Factor V Leiden (FVL) and prothrombin gene G20210A (PT20210A) are known risk factors for VTE in adults.
- The role of these mutations in pediatric VTE requires further investigation, particularly in diverse populations.
Purpose of the Study:
- To investigate the prevalence and association of FVL and PT20210A mutations with VTE in Argentinean children.
- To determine if these genetic factors significantly increase the risk of VTE in a pediatric cohort.
- To identify other potential inherited or acquired risk factors in children with VTE.
Main Methods:
- Prospective study of 130 consecutive children diagnosed with VTE.
- Detailed hematological analysis including genetic testing for FVL and PT20210A mutations in 110 patients.
- Comparison of mutation prevalence with a control group to calculate odds ratios (OR) and confidence intervals (CI).
Main Results:
- Factor V Leiden (FVL) mutation was found to be a significant risk factor for VTE in Argentinean children (OR 3.64; 95% CI: 1.14-11.6, p < 0.029).
- The prothrombin gene G20210A mutation (PT20210A) did not show a statistically significant increase in VTE risk (OR 1.06; 95% CI: 0.24-4.73, p = 0.938).
- Combined mutations were present in 5/10 children with identified mutations, and other risk factors were found in 19% of children without these specific mutations.
Conclusions:
- Factor V Leiden (FVL) is confirmed as a significant risk factor for venous thromboembolism in Argentinean children.
- The prothrombin gene G20210A mutation (PT20210A) does not appear to be a significant risk factor in this pediatric population.
- Further research into combined genetic and acquired factors is warranted for a comprehensive understanding of pediatric VTE risk.
Abstract:
To determine whether factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) are risk factors for venous thromboembolism (VTE) in Argentinean children. One hundred and thirty consecutive children with VTE were prospectively assisted at a single centre. Blood samples were available from 110 of them for detailed haematological analysis. The prevalence of both mutations was compared with a control group. The odds ratio for VTE was significantly increased in patients with FVL (OR 3.64; 95% CI: 1.14-11.6, p < 0.029) whereas odds ratio for VTE was not significantly increased in patients with PT20210A (OR 1.06; 95% CI: 0.24-4.73, p = 0.938). Combined disorders were found in 5 of the 10 children with the aforementioned mutations. In 21 children (19%) without these mutations other inherited and acquired disorders were detected. Our data show that FVL is a risk factor for VTE whereas PT20210A does not seem to be a risk factor in our paediatric population.