European Journal of Pediatrics

, Volume 155, Issue 11, pp 921–927

Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism

  • U. Nowak-Göttl
  • K. Auberger
  • U. Göbel
  • W. Kreuz
  • R. Schneppenheim
  • H. Vielhaber
  • W. Zenz
  • B. Zieger
Review

Abstract

Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.

Key words

Resistance to activated protein C (APCR) Protein C Protein S Childhood thrombo-embolism 

Abbreviations

APC

activated protein C

APCR

resistance to the anticoagulatory effect of protein C

aPTT

activated partial thromboplastin time

C4bB

C4b binding protein

FFP

fresh frozen plasma

PC

protein C

PS

protein S

TF

tissue factor

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • U. Nowak-Göttl
    • 1
  • K. Auberger
    • 2
  • U. Göbel
    • 3
  • W. Kreuz
    • 4
  • R. Schneppenheim
    • 5
  • H. Vielhaber
    • 1
  • W. Zenz
    • 6
  • B. Zieger
    • 7
  1. 1.Department of Paediatrics, Paediatric Haematology and OncologyWestfälische Wilhelms-UniversitätMünsterGermany
  2. 2.Department of PaediatricsUniversity HospitalMunichGermany
  3. 3.Department of PaediatricsUniversity HospitalDüsseldorfGermany
  4. 4.Department of PaediatricsUniversity HospitalFrankfurt-am-MainGermany
  5. 5.Department of PaediatricsUniversity HospitalKielGermany
  6. 6.Department of PaediatricsUniversity HospitalGrazAustria
  7. 7.Department of PaediatricsUniversity HospitalFreiburgGermany

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