Prepublished online as a Blood First Edition Paper on June 7, 2002; DOI 10.1182/blood-2002-04-1186.
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Blood, 1 October 2002, Vol. 100, No. 7, pp. 2403-2405
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
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
From the Department of Medical and Surgical Sciences,
2nd Chair of Internal Medicine, University of Padua Medical School,
Padua, Italy.
Antithrombin and protein C and S defects, factor V Leiden mutation,
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 1-14 years), who
were family members of a proband with an objectively diagnosed venous
thromboembolic 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, whereas the remaining 62 were free
from known genetic or acquired causes of thrombophilia. The mean
observation period was 5 years (range, 1-8 years) in each group.
Thirty-one risk periods occurred in the carriers group and 20 in
noncarriers. 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 who belong to families
with inherited defects predisposing to thrombosis seems unjustified.
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