Congenital thrombophilia and thrombosis: a study in a single centre

Abstract

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.