title: Thrombophilia testing in neonates and infants with thrombosis.
abstract: In neonates and infants with idiopathic venous thrombosis (VTE) and in pediatric populations in which thromboses were associated with medical diseases, inherited thrombophilia (IT) have been described as risk factors. Follow-up data for VTE recurrence in neonates suggest a recurrence rate between 3% in provoked and 21% in idiopathic VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE have shown significant associations between factor V G1691A, factor II G20210A, and deficiencies of protein C, protein S and antithrombin, even more pronounced when combined IT were involved. Independent from the age at first VTE onset, the pooled odds ratios (OR: single IT) for VTE ranged from 2.4 for the factor II G20210A mutation to 9.4 in neonates and infants with antithrombin deficiency. The pooled OR for persistent antiphospholipid antibodies/lupus anticoagulants was 4.9 for pediatric patients with venous VTE. The factor II G20210A mutation (OR: 2.1), and deficiencies of protein C (OR: 2.4), S (OR: 3.1) and antithrombin (OR: 3.0) also played a significant role at recurrence. Based on these data, screening and treatment algorithms must be discussed.
authors.affiliation: Department of Coagulation and Hemostasis, Institute of Clinical Chemistry, University Hospital Schleswig-Holstein, Arnold-Heller-Str. 3, Building 17, Campus Kiel, D-24105 Kiel, Germany. leagottl@uk-sh.de
authors.forename: Ulrike
authors.initials: U
authors.lastname: Nowak-Göttl
authors.forename: Karin
authors.initials: K
authors.lastname: Kurnik
authors.forename: Daniela
authors.initials: D
authors.lastname: Manner
authors.forename: Gili
authors.initials: G
authors.lastname: Kenet
mesh_terms: D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017354:Point Mutation; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography; D020246:Venous Thrombosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics