Key result
The factor V G1691A mutation was significantly more frequent in adolescents with thrombosis than healthy controls (22.1% vs 7.4%), increasing the risk of thrombosis 3.6-fold (95% CI 1.4-9.0).
Why the study?
What are the clinical and laboratory characteristics, including genetic mutations, associated with thrombosis in adolescent patients compared to children and healthy controls?
Observational (n=360)
What are the clinical and laboratory characteristics, including genetic mutations, associated with thrombosis in adolescent patients compared to children and healthy controls?
Odds Ratio: 3.6 (95% CI 1.4–9)
Absolute Event Rate: 22.1% vs 7.4%
The Factor V G1691A mutation is a significant risk factor for thrombosis in adolescent patients, whereas the prothrombin G20210A mutation is not.
Factor V G1691A mutation was associated with thrombosis in adolescents; extends adult genetic data but leaves open prospective validation.
A total of 360 pediatric patients aged 1 month to 18 years were diagnosed as having thrombosis between January 1998 and April 2003. Of these patients, those aged 11-18 years (n=131) were regarded as adolescents and the rest as children. The proportion of adolescents in the whole group excluding the neonates was 36%. The peak age of diagnosis in adolescents was 11-14 years, comprising 58% of all thrombotic events in adolescents. In 73% of the adolescents, there was at least one risk factor. The four most common underlying disorders were infection, malignancy, connective tissue and cardiac disorders, in decreasing order of frequency. In children, on the other hand, infection was followed by congenital heart disease, malignancy and liver disease. Three common types of thrombosis in adolescents were deep venous thrombosis, cerebro-vascular events and portal venous thrombosis, while cerebro-vascular events were the most common in children. The frequency of factor V G1691A mutation in the adolescents (22.1%) was significantly higher than that found in a group of healthy controls (7.4%) and this mutation was associated with a 3.6-fold increase in the risk of developing thrombosis (95% confidence interval, 1.4-9.0). The carrier frequency of prothrombin G20210A mutation (3.1%) in adolescents did not differ significantly from that of the healthy population (2.3%) and no association was observed between this mutation and a risk of developing thrombosis in this group (odds ratio, 1.3; 95% confidence interval, 0.2-7.5). The rate of recurrent thrombosis was 6%.
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Gürgey et al. (2004) conducted an observational in Thrombosis (n=360). Factor V G1691A mutation vs. Healthy controls was evaluated on Development of thrombosis (OR 3.6, 95% CI 1.4-9.0). The factor V G1691A mutation was significantly more frequent in adolescents with thrombosis than healthy controls (22.1% vs 7.4%), increasing the risk of thrombosis 3.6-fold (95% CI 1.4-9.0).
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