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Prepublished online as a Blood First Edition Paper on June 7, 2002; DOI 10.1182/blood-2002-04-1186.
Submitted April 22, 2002
Accepted May 23, 2002
The incidence of venous thromboembolism in thrombophilic children: a prospective cohort study
Daniela Tormene, Paolo Simioni, Paolo Prandoni*, Francesca Franz, Patrizia Zerbinati, Giulio Tognin, and Antonio Girolami
Medical and Surgical Sciences, University of Padua, Padua, Italy
* Corresponding author; email: paoprand{at}tin.it.
Antithrombin, protein C and S defects, Factor V Leiden and G20210A prothrombin gene mutation are well recognized risk factors for venous thromboembolism (VTE) in adults, especially during circumstantial situations such as trauma, immobilization, surgery, or oral contraceptive treatment. The relevance of these defects in predisposing children to VTE is still undefined. In a prospective cohort study we assessed the incidence of spontaneous and risk period-related VTE in asymptomatic children (aged 1 to 14 years), who were family members of a proband with an objectively diagnosed VTE event and a documented single thrombophilic abnormality. We enrolled 143 children from 63 families. Of them, 81 (56.6%) were carriers of an inherited defect, while the remaining 62 were free from thrombophilia. The mean observation period was five years (range, 1 to 8 years) in each group. Thirty-one risk periods occurred in the carriers group, and 20 in non-carriers. Neither spontaneous nor risk period- related VTE occurred in either group during 395 and 296 observation years, respectively. However, circumstances where most of the pediatric thromboses occur (insertion of central venous lines, cancer, and cardiovascular surgery) were not encountered. In conclusion, the thrombotic risk in otherwise healthy children with a single identified thrombophilic defect appears to be very low. Common triggering conditions for VTE in thrombophilic adults do not seem to increase the thrombotic risk in children carrying the same inherited defect. Accordingly, screening for thrombophilia in otherwise healthy children younger than 15 years, belonging to families with inherited defects predisposing to thrombosis, seems unjustified.
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