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Congenital thrombophilia and thrombosis: a study in a single centre
S E Lawson1, D Butler, M S Enayat
1Department of Haematology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Insights
Congenital thrombophilia is common in children with blood clots. Full thrombophilia investigations are crucial for all children experiencing thromboembolic disease.
Area of Science:
- Pediatric Hematology
- Thrombosis Research
- Genetics
Background:
- Thromboembolism in children is a serious condition.
- Understanding the underlying causes, including inherited clotting disorders, is critical for effective management.
Purpose of the Study:
- To determine the incidence of congenital thrombophilia in pediatric patients with symptomatic thromboembolism.
- To highlight the role of inherited thrombotic risk factors in childhood thrombosis.
Main Methods:
- Retrospective review of 30 children with thromboembolism over 12 months.
- Data collection included patient demographics, thrombosis details, and family history.
- Comprehensive thrombophilia screening, including factor V Leiden and protein deficiencies.
Main Results:
- A high incidence of congenital thrombophilia was observed (43% of patients).
- Most patients (83%) had acquired precipitating factors for thromboembolism.
- Twenty-seven out of 30 patients had at least one risk factor for blood clots.
Conclusions:
- Congenital thrombophilia is a significant factor in childhood thromboembolic events.
- Routine, full thrombophilia investigations are recommended for all children with thromboembolic disease.
- Identifying these genetic predispositions aids in understanding thrombosis pathogenesis.
Aim:
To identify the incidence of congenital thrombophilia in a cohort of children presenting with symptomatic thromboembolism.
Method:
A review of children with thromboembolism investigated for thrombophilia over a 12 month period.
Subjects:
Thirty children with thromboembolic episodes and 16 of their family members. MEASUREMENTS AND DATA COLLECTION: Data were collected on age at diagnosis, underlying diagnosis, site of thrombosis, associated precipitating factors, occurrence of other thromboembolic events, and family history. Investigations included measurement of protein C activity, total and free protein S antigen, antithrombin III activity, screening for factor V Leiden and prothrombin 20210A, urinary homocysteine estimation, and a screen for lupus anticoagulant.
Results:
Twenty seven of 30 patients had one or more risk factors present at the time of thromboembolism. Eighty three per cent had acquired precipitating factors present, and 43% had underlying congenital thrombophilia.
Conclusions:
There was a high incidence of congenital thrombophilia in this group of patients with symptomatic thromboembolism. These findings emphasise the importance of such defects in the pathogenesis of childhood thrombosis, and suggest that full thrombophilia investigations should be performed on all children presenting with thromboembolic disease.