title: Thrombophilia in childhood: to test or not to test.
abstract: Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In children, inherited thrombophilia contributes to the development of pediatric thromboembolic disease. As a consequence, pediatric hematologists are increasingly requested to test thrombophilia in pediatric patients with thrombosis or asymptomatic children from thrombophilic families. This article reviews the benefits and limitations of testing for thrombophilic disorders, for example, factor V Leiden, prothrombin mutation, and deficiencies of antithrombin, protein C, or protein S in childhood.
authors.affiliation: Department of Paediatric Haematology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands. c.h.vanommen@amc.nl
authors.forename: C
authors.initials: C
authors.lastname: Heleen van Ommen
authors.forename: Saskia
authors.initials: S
authors.lastname: Middeldorp
mesh_terms: D000293:Adolescent; D000328:Adult; D000925:Anticoagulants / Q000191:economics; D000990:Antithrombin III / Q000235:genetics; D020152:Antithrombin III Deficiency / Q000175:diagnosis / Q000453:epidemiology; D002648:Child; D003955:Diagnostic Tests, Routine / Q000191:economics; D005165:Factor V / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D015995:Prevalence; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency / Q000175:diagnosis / Q000453:epidemiology; D017293:Protein S / Q000235:genetics; D018455:Protein S Deficiency / Q000175:diagnosis / Q000453:epidemiology; D011516:Prothrombin / Q000235:genetics; D012008:Recurrence; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000925:Anticoagulants; D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D000990:Antithrombin III; D005165:Factor V; D011516:Prothrombin