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Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months

E G Tuddenham1, T Takase, A E Thomas

  • 1Haemostasis Research Group, Clinical Research Centre, Harrow, Middlesex, U.K.

Thrombosis Research
|March 1, 1989
PubMed

Insights

Homozygous protein C deficiency presents unique challenges, with two cases showing intermediate severity. Early intervention with plasma or prothrombin complex, followed by Warfarin, proved effective for these patients.

Area of Science:

  • Genetics
  • Hematology
  • Pediatrics

Background:

  • Protein C deficiency is a rare inherited thrombophilia.
  • Homozygous forms typically manifest in neonates with severe thrombotic events like purpura fulminans.
  • Dominant and recessive forms exhibit distinct clinical presentations.

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