A case of purpura fulminans is caused by homozygous delta8857 mutation (protein C-nagoya) and successfully treated with activated protein C concentrate

Br J Haematol. 2000 Sep;110(3):727-30. doi: 10.1046/j.1365-2141.2000.02230.x.

Abstract

We report a Japanese patient who developed purpura fulminans and disseminated intravascular coagulation (DIC) shortly after birth. The patient was diagnosed to be homozygous for protein C deficiency and was treated with an activated protein C (APC) concentrate. Intravenous infusions of APC markedly improved the necrotic skin lesions and the anticoagulation by APC enabled successful DIC control. The identified mutation (Delta8857) results in impaired intracellular transport and protein maturation and would be the cause of the complete protein C deficiency. This is the seventh case of the mutation that has been exclusively reported in Japan, but is the first report of a homozygous case. Our findings propose new therapeutic and diagnostic tools for the management of this fatal thrombotic disease.

Publication types

  • Case Reports

MeSH terms

  • Disseminated Intravascular Coagulation / genetics*
  • Female
  • Humans
  • IgA Vasculitis / genetics*
  • IgA Vasculitis / therapy
  • Infant, Newborn
  • Male
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Protein C / administration & dosage
  • Protein C / genetics*
  • Protein C Deficiency / genetics*
  • Protein C Deficiency / therapy

Substances

  • Protein C
  • protein C Nagoya, human