HOMOZYGOUS PROTEIN-C DEFICIENCY - MANAGEMENT WITH PROTEIN-C CONCENTRATE

Two unrelated female infants with homozygous protein C (Pr C) deficien cy are reported. Both are of U.K. Pakistani origin and in each case th e parents are consanguinous. A previous sibling had died in each famil y. Both sets of parents were shown to be carriers. The concentration o f Pr C in both infants was low at birth. Both developed necrotic skin lesions (purpura fulminans) and responded well to Pr C concentrate. Bo th are developing normally although one has visual impairment due to r etinal artery thrombosis which occurred before treatment was commenced . Both infants are treated with intravenous Pr C concentrate administe rd 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 onc e daily while still maintaining effective plasma concentrations. In th e other patient half-life has fluctuated but Pr C is also given once d aily. 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 t he medium term.