Protein C deficiency

N. A. Goldenberg, Marilyn J. Manco-johnson

Research output: Contribution to journalArticlepeer-review

Abstract

Severe protein C deficiency (i.e. protein C activity <1 IUdL-1) is a rare autosomal recessive disorder that usually presents in the neonatal period with purpura fulminans (PF) and severe disseminated intravascular coagulation (DIC), often with concomitant venous thromboembolism (VTE). Recurrent thrombotic episodes (PF, DIC, or VTE) are common. Homozygotes and compound heterozygotes often possess a similar phenotype of severe protein C deficiency. Mild (i.e. simple heterozygous) protein C deficiency, by contrast, is often asymptomatic but may involve recurrent VTE episodes, most often triggered by clinical risk factors. The coagulopathy in protein C deficiency is caused by impaired inactivation of factors Va and VIIIa by activated protein C after the propagation phase of coagulation activation. Mutational analysis of symptomatic patients shows a wide range of genetic mutations. Management of acute thrombotic events in severe protein C deficiency typically requires replacement with protein C concentrate while maintaining therapeutic anticoagulation; protein C replacement is also used for prevention of these complications around surgery. Long-term management in severe protein C deficiency involves anticoagulation with or without a protein C replacement regimen. Although many patients with severe protein C deficiency are born with evidence of in utero thrombosis and experience multiple further events, intensive treatment and monitoring can enable these individuals to thrive. Further research is needed to better delineate optimal preventive and therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)1214-1221
Number of pages8
JournalHaemophilia
Volume14
Issue number6
DOIs
StatePublished - 2008
Externally publishedYes

Keywords

  • Disseminated intravascular coagulation
  • Neonatal thrombosis
  • Protein C
  • Purpura fulminans
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)

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