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Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor
Ariel Koren1, Carina Levin, Yaser Hujirat
1Pediatric Hematology Unit and Pediatrics Department B, Ha'Emek Medical Center, Afula, Israel. koren_a@clalit.org.il
Insights
Genetic factors increase the risk of thrombotic events in infants, particularly cerebrovascular accidents. Multiple prothrombotic factors may contribute to these serious conditions in newborns.
Area of Science:
- Pediatric Thrombosis
- Neonatal Neurology
- Genetic Risk Factors
Background:
- Thromboembolism is a known risk in children, but data for infants and neonates are limited.
- Understanding genetic predispositions is crucial for identifying at-risk infants.
Purpose of the Study:
- To investigate genetic thrombophilic risk factors in infants with thrombotic events.
- To identify common thrombotic events and their genetic associations in this population.
Main Methods:
- Retrospective analysis of clinical and laboratory records of 9 infants with thrombotic events.
- Exclusion of patients with underlying diseases.
- Comparison of genetic mutation frequencies against a control group of 80 children.
Main Results:
- Cerebrovascular accident was the primary thrombotic event (6/9 patients), including antenatal brain infarcts.
- Factor V Leiden mutations were present in 7 infants (heterozygous) and 1 (homozygous).
- Methylenetetrahydrofolate reductase genotype and combined mutations were observed in multiple cases.
Conclusions:
- Cerebrovascular accident is the leading thrombotic event in infants.
- Multiple prothrombotic genetic factors may increase the risk of these events.
- Further research with larger cohorts is needed for definitive management recommendations.
Abstract:
Thrombophilic risk factors are associated with thromboembolism in children but data in infants and neonates are not well established. The authors report a series of 9 infants with thrombotic events and the associated genetic risk factors. The clinical and laboratory records of newborns and infants with a history of thrombotic events were summarized, while patients with underlying diseases were excluded. The frequency of the genetic mutations was compared to a control group of 80 children from the same ethnic origin. In 6 patients a cerebrovascular accident was diagnosed and in 3 newborns, CT scan could diagnose antenatal brain infarct. In another 2 patients deep-vein thrombosis associated with femoral catheterization was diagnosed. Seven infants were factor V Leiden heterozygous and another one homozygous. Methylenetetrahydrofolate reductase genotype was found in 5 infants. Five cases were found to be double heterozygous for those two mutations, and another one double heterozygous for FVL and factor II. The results of this small series of patients indicate that cerebrovascular accident is the major thrombotic event in infants and the combination of more than one prothrombotic factors may be the cause of those events. The correct management, including anticoagulant therapy, is still under discussion and waiting for larger series and long-term follow-up results until accurate recommendations can be made.