title: Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study.
abstract: Venous thromboembolism [TE] is a multifactorial disease and protein C deficiency [PCD] constitutes a major risk factor. In the present study the prevalence of PCD and the clinical presentation at TE onset, including neonatal purpura fulminans, in a cohort of children are reported. In 367 unselected children (0·1-19 years) recruited between July 1996 and December 2013, a comprehensive thrombophilia screening was performed along with recording of anamnestic data. Twenty-five of 338 children (7·4%) had PCD. Mean age at first TE onset was 10 years (range 0·1-18). Leading thromboembolic manifestations were neonatal purpura fulminans (n = 5), TE of cerebral veins (n = 3), stroke (n = 2) deep veinthrombosis (DVT) of the leg (n = 10), DVT & pulmonary embolism (n = 2) and DVT & pelvic veins (n = 3). Concomitant risk factors for TE were identified in 12 patients, whereas 13 children spontaneously developed TE. A positive family history of DVT was found in 10 children. In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. Given its clinical implication for patients and family members, thrombophilia testing should be performed and the benefit of medical or educational interventions should be evaluated in this high-risk population.
authors.affiliation: Institute of Clinical Chemistry, University Hospital of Kiel & Lübeck, Lübeck, Germany.
authors.forename: Verena
authors.initials: V
authors.lastname: Limperger
authors.forename: Ulrich C
authors.initials: UC
authors.lastname: Klostermeier
authors.forename: Gili
authors.initials: G
authors.lastname: Kenet
authors.forename: Susanne
authors.initials: S
authors.lastname: Holzhauer
authors.forename: Martine
authors.initials: M
authors.lastname: Alhenc Gelas
authors.forename: Ulrich
authors.initials: U
authors.lastname: Finckh
authors.forename: Ralf
authors.initials: R
authors.lastname: Junker
authors.forename: Christine
authors.initials: C
authors.lastname: Heller
authors.forename: Barbara
authors.initials: B
authors.lastname: Zieger
authors.forename: Karin
authors.initials: K
authors.lastname: Kurnik
authors.forename: Ralf
authors.initials: R
authors.lastname: Knöfler
authors.forename: Rolf
authors.initials: R
authors.lastname: Mesters
authors.forename: Susan
authors.initials: S
authors.lastname: Halimeh
authors.forename: Ulrike
authors.initials: U
authors.lastname: Nowak-Göttl
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D015995:Prevalence; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D011655:Pulmonary Embolism / Q000453:epidemiology / Q000209:etiology; D055665:Purpura Fulminans / Q000453:epidemiology / Q000209:etiology; D012307:Risk Factors; D020521:Stroke / Q000453:epidemiology / Q000209:etiology; D019851:Thrombophilia / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000453:epidemiology / Q000209:etiology; D020246:Venous Thrombosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D011486:Protein C
keywords: children; genetics; protein C deficiency; purpura fulminans