title: Heritable thrombophilia and childhood thrombosis.
abstract: Thrombotic problems are rare during childhood but are increasingly recognized, particularly in tertiary care paediatric populations, and represent a different spectrum of disorders to those seen in adults. An understanding of the aetiological factors involved in the pathogenesis of these events is important both for prevention and management. A number of inherited prothrombotic defects have been shown to be independent risk factors for thromboembolism in adult studies, and may also contribute to thrombotic events in childhood. Homozygous deficiencies of naturally occurring inhibitors of coagulation are clearly associated with major prothrombotic disorders, often presenting in the perinatal period. The association of other inherited prothrombotic disorders with thrombosis in childhood is less well defined. The prevalence of heritable thrombophilia varies in different clinical settings and the risks associated with individual defects has only been addressed in a small number of studies to date. Additional acquired risk factors are also present in a high percentage of cases and again differ from those seen in adult thrombosis. Further studies are required to assess the risks associated with heritable thrombophilia during infancy and childhood, and to define the place of thrombophilia screening in paediatric practice.
authors.affiliation: Department of Haematology, Royal Hospital for Sick Children, Yorkhill NHS Trust, Glasgow, UK. elizabeth.chalmers@yorkhill.scot.nhs.uk
authors.forename: E A
authors.initials: EA
authors.lastname: Chalmers
mesh_terms: D000991:Antithrombins / Q000172:deficiency; D025861:Blood Coagulation Disorders, Inherited / Q000235:genetics; D002648:Child; D005165:Factor V / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008403:Mass Screening; D011486:Protein C / Q000235:genetics; D017293:Protein S / Q000235:genetics; D012307:Risk Factors; D020521:Stroke / Q000209:etiology; D013923:Thromboembolism / Q000209:etiology; D019851:Thrombophilia / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D013927:Thrombosis / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: D000991:Antithrombins; D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D005165:Factor V