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Homozygous protein C deficiency—management with protein C concentrate

  • Hematology/Oncology
  • Original Paper
  • Published:
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Abstract

Abstract

Two unrelated female infants with homozygous protein C (Pr C) deficiency are reported. Both are of U.K. Pakistani origin and in each case the parents are consanguinous. A previous sibling had died in each family. Both sets of parents were shown to be carriers. The concentration of Pr C in both infants was low at birth. Both developed necrotic skin lesions (purpura fulminans) and responded well to Pr C concentrate. Both are developing normally although one has visual impairment due to retinal artery thrombosis which occurred before treatment was commenced. Both infants are treated with intravenous Pr C concentrate administerd daily by the parents at home. Studies of the half-life of exogenous Pr C in one of the patients has shown an increase from 2.7 to 10.8 h during the course of treatment thus enabling it to be administered once daily while still maintaining effective plasma concentrations. In the other patient half-life has fluctuated but Pr C is also given once daily. This is the first report of this condition being treated in this way in the United Kingdom.

Conclusion

Infusion of Pr C is a safe and efficient way of treating infants with homozygous Pr C deficiency in the medium term.

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Abbreviations

FFP :

fresh frozen plasma

PCC :

prothrombin complex concentrate

Pr C :

protein C

Pr C(a) :

antigenic Protein C

Pr C(f) :

functional (ie bioactive) Protein C

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Authors and Affiliations

  1. Department of Paediatrics, Newham General Hospital, Glen Road, Plaistow, E13 8 RU, London, UK

    V. Baliga, R. Thwaites & J. Allgrove

  2. Department of Paediatrics, St Luke's Hospital, Little Horton Lane, BD5 0NA, Bradford, UK

    V. Baliga, A. Minford & L. Parapia

  3. Departments of Haematology, Newham General Hospital, Glen Road, Plaistow, E13 8RU, London, UK

    M. L. Tillyer

  4. royal London Hospital Trust, Whitechapel, E1 1BB, London, UK

    M. L. Tillyer

Authors
  1. V. Baliga
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  2. R. Thwaites
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  3. M. L. Tillyer
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  4. A. Minford
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  5. L. Parapia
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  6. J. Allgrove
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Baliga, V., Thwaites, R., Tillyer, M.L. et al. Homozygous protein C deficiency—management with protein C concentrate. Eur J Pediatr 154, 534–538 (1995). https://doi.org/10.1007/BF02074829

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  • DOI: https://doi.org/10.1007/BF02074829

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