title: Inherited resistance to activated protein C in a boy with multiple thromboses in early infancy.
abstract: Resistance to activated protein C is a recently discovered genetic defect with a high prevalence in adult patients with thromboembolic disease. It is an autosomal dominant disorder and is ten times more common in these patients than antithrombin III-, protein C- and protein S deficiency together. In spite of this high prevalence among adults with thromboembolic disease no clinical manifestation in infancy so far has been reported. We describe a 4-year-old boy with a complex cardiac malformation and inherited resistance to activated protein C, who developed multiple thromboses after cardiac catheterization in early infancy. Conclusion. Resistance to activated protein C can cause thrombosis in infants and children if additional risk factors for the development of thrombosis are present.
authors.affiliation: Department of Paediatrics, Children's Hospital, Karl-Franzens-University of Graz, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Zenz
authors.forename: W
authors.initials: W
authors.lastname: Muntean
authors.forename: S
authors.initials: S
authors.lastname: Gallistl
authors.forename: B
authors.initials: B
authors.lastname: Leschnik
authors.forename: A
authors.initials: A
authors.lastname: Beitzke
mesh_terms: D001780:Blood Coagulation Tests; D006328:Cardiac Catheterization; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004789:Enzyme Activation / Q000235:genetics; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000097:blood / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D009842:Oligopeptides / Q000235:genetics*; D010375:Pedigree; D011183:Postoperative Complications / Q000097:blood / Q000175:diagnosis; D011486:Protein C / Q000235:genetics; D012307:Risk Factors; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics*
chemical_list: D009842:Oligopeptides; D011486:Protein C; C047135:protein C activator peptide