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Clinical manifestations of the prothrombin G20210A mutation in children: a pediatric coagulation consortium study
G Young1, M Manco-Johnson, J C Gill
1Children's Hospital of Orange County, Orange, California 92868, USA. gyoung@choc.org
Insights
The prothrombin G20210A mutation frequently causes thrombosis in children, often affecting the central nervous system and arterial circulation. Evaluation for this mutation is recommended in pediatric thrombosis cases.
Area of Science:
- Pediatric Hematology
- Thrombosis and Hemostasis
- Genetic Risk Factors
Background:
- The prothrombin G20210A mutation is a known risk factor for thrombosis.
- Clinical manifestations in children are not well-documented.
- Understanding pediatric presentations is crucial for diagnosis and management.
Purpose of the Study:
- To determine the clinical manifestations of the prothrombin G20210A mutation in pediatric patients.
- To compare arterial versus venous thrombosis in children with this mutation.
- To identify key differences compared to other thrombotic risk factors.
Main Methods:
- Survey of pediatric hematologists to collect data on pediatric thrombosis cases.
- Identification of patients with the prothrombin G20210A mutation.
- Retrospective analysis of clinical data and thrombotic event characteristics.
Main Results:
- Thirty-eight pediatric patients with the prothrombin mutation and thrombotic events were identified.
- Arterial thrombosis occurred in younger children, often involving the central nervous system (CNS) with fewer additional risk factors.
- Venous thrombosis occurred in older children, typically with coexisting risk factors, and frequently in extremities or cerebral circulation.
- CNS thrombosis was a significant finding, accounting for 30% of all events and 67% of arterial events.
Conclusions:
- The prothrombin G20210A mutation in children is associated with both arterial and venous thrombosis, notably with a high frequency of CNS events.
- Unlike other inherited thrombophilias, it frequently presents with arterial thrombosis in pediatric populations.
- Pediatric patients experiencing arterial or venous thrombosis should be evaluated for the prothrombin G20210A mutation.
Abstract:
The prothrombin G20210A mutation is a common risk factor for thrombosis which increases the risk of deep vein thrombosis, stroke, and fetal loss. There are few publications of its clinical manifestations in children. Our objective was to determine the clinical manifestations of the prothrombin mutation in children. Via survey of pediatric hematologists, we collected data on children with thrombosis and the prothrombin mutation. Thirty-eight patients with a thrombotic event were identified as having the prothrombin mutation. Children with arterial thrombosis were younger, less than half had additional risk factors present at the time of the event, and had a high frequency of central nervous system thrombosis. Children with venous thrombosis were older, almost always had additional risk factors present, and had thrombosis occur most often in the extremities, although there were also a significant number of events in the central venous and cerebral circulation. There was a striking predilection for central nervous system events as 30% of all the events and 67% of the arterial events occurred there. In all, 14/38 children (37%) had central nervous system thrombosis. Unlike factor V Leiden and deficiencies of proteins C and S which cause venous thromboembolism, the prothrombin mutation in children is often associated with arterial thrombosis and with central nervous system events. In children with the prothrombin mutation and venous thrombosis, other risk factors are usually present. Therefore, children with arterial or venous thrombosis of any location should be evaluated for the presence of the prothrombin mutation.
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