title: Pediatric venous thromboembolic disease in one single center: congenital prothrombotic disorders and the clinical outcome.
abstract: To learn more about the frequencies of congenital prothrombotic disorders in pediatric venous thromboembolism (VTE) and the outcome of this disease, we evaluated consecutive patients from 0 to 18 years with objectively diagnosed VTE at a single tertiary center over a 12-year period. We included 100 patients, with a median age at diagnosis of 1.0 year (range 2 days to 17 years). At least one underlying clinical condition was present in 96% of the patients. Factor (F)V G1691A mutation was present in 13%, FII G20210A mutation in 3%, antithrombin deficiency in 1%, protein C deficiency in 1% and protein S deficiency in 1% of the tested patients. Combined defects were present in 2.6% of the 77 patients with a complete work-up. Positive family history appeared to be the only predictor for positive testing for congenital disorders (OR 14.9, 95% CI 1.9-113). The overall mortality rate was 20%. The cumulative recurrence-free survival was 92% after 1 year of follow-up, and 82% after 7 years. The incidence and severity of the post-thrombotic syndrome was analyzed in a subgroup of 33 patients with VTE of the lower extremities. Twenty-three (70%) patients developed PTS: moderate in three and mild in 20 patients. In conclusion, congenital prothrombotic disorders seem to play a role in the development of pediatric VTE, and the risk of complications of this disease is high.
authors.affiliation: Department of Pediatrics (Pediatric Hematology), Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands. c.h.vanommen@amc.uva.nl
authors.forename: C H
authors.initials: CH
authors.lastname: van Ommen
authors.forename: H
authors.initials: H
authors.lastname: Heijboer
authors.forename: E J
authors.initials: EJ
authors.lastname: van den Dool
authors.forename: B A
authors.initials: BA
authors.lastname: Hutten
authors.forename: M
authors.initials: M
authors.lastname: Peters
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D020151:Protein C Deficiency; D018455:Protein S Deficiency; D011516:Prothrombin / Q000235:genetics; D012008:Recurrence; D016019:Survival Analysis; D013923:Thromboembolism / Q000150:complications / Q000209:etiology* / Q000401:mortality; D019851:Thrombophilia / Q000097:blood / Q000151:congenital* / Q000401:mortality; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000150:complications / Q000209:etiology* / Q000401:mortality
chemical_list: D005165:Factor V; D011516:Prothrombin