Inherited resistance to activated protein C in a boy with multiple thromboses in early infancy

Eur J Pediatr. 1995 Apr;154(4):285-8. doi: 10.1007/BF01957363.

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.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation Tests
  • Cardiac Catheterization
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Enzyme Activation / genetics
  • Genes, Dominant*
  • Heart Defects, Congenital / blood
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / surgery
  • Humans
  • Male
  • Oligopeptides / genetics*
  • Pedigree
  • Postoperative Complications / blood
  • Postoperative Complications / diagnosis
  • Protein C / genetics
  • Risk Factors
  • Thrombophlebitis / blood
  • Thrombophlebitis / genetics*

Substances

  • Oligopeptides
  • Protein C
  • protein C activator peptide