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Homozygous protein C deficiency--management with protein C concentrate

V Baliga1, R Thwaites, M L Tillyer

  • 1Department of Paediatrics, Newham General Hospital, Plaistow, London, UK.

European Journal of Pediatrics
|July 1, 1995
PubMed

Insights

Home treatment with protein C (Pr C) concentrate safely and effectively manages infants with homozygous Pr C deficiency. This approach allows for daily intravenous infusions, improving patient outcomes and quality of life.

Area of Science:

  • Hematology
  • Pediatrics
  • Genetics

Background:

  • Homozygous protein C (Pr C) deficiency is a rare, severe genetic disorder.
  • Consanguinous Pakistani families in the UK reported two unrelated female infants with this condition.
  • Previous sibling mortality in both families suggested a genetic inheritance pattern.

Observation:

  • Both infants presented with low protein C levels at birth.
  • Necrotic skin lesions, indicative of purpura fulminans, developed in both infants.
  • One infant experienced retinal artery thrombosis before treatment initiation.

Findings:

  • Intravenous protein C concentrate administration led to a positive clinical response in both infants.
  • Treatment enabled daily home infusions by parents.
  • Exogenous protein C half-life increased significantly in one patient, allowing for once-daily dosing.

Implications:

  • Home-based protein C concentrate infusion is a safe and effective medium-term treatment strategy for infants with homozygous Pr C deficiency.
  • This treatment approach improves the management of this rare bleeding disorder.
  • The findings support decentralized care models for managing chronic genetic conditions in infants.
Abstract

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