title: Activated protein C resistance and the factor V Leiden mutation in children with thrombosis.
abstract: To determine the prevalence of activated protein C resistance and the factor V Leiden mutation (position 1691, arginine 506 to glutamine substitution) in children with thrombosis, plasma samples from children with thrombosis were tested for activated protein C resistance. DNA was analyzed for the factor V Leiden mutation. Five of 34 children (15%) had activated protein C resistance; each was heterozygous for the factor V Leiden mutation. All 5 children heterozygous for the factor V Leiden mutation suffered non-CNS venous thromboses comprising 21% of the group of children (5/24) with non-CNS venous thrombotic events. Each of these 5 children had a family history of thrombosis. In conclusion, children with non-CNS venous thrombosis should be evaluated for the factor V Leiden mutation. Children most likely affected are those with a family history of thrombosis.
authors.affiliation: The University of Colorado Health Sciences Center and the Department of Pediatrics at The Children's Hospital, Denver, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Sifontes
authors.forename: R
authors.initials: R
authors.lastname: Nuss
authors.forename: S P
authors.initials: SP
authors.lastname: Hunger
authors.forename: J
authors.initials: J
authors.lastname: Waters
authors.forename: L J
authors.initials: LJ
authors.lastname: Jacobson
authors.forename: M
authors.initials: M
authors.lastname: Manco-Johnson
mesh_terms: D000293:Adolescent; D020152:Antithrombin III Deficiency; D001777:Blood Coagulation; D002648:Child; D005165:Factor V / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D010314:Partial Thromboplastin Time; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics*
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V