Severe homozygous protein C deficiency.
An infant with recurrent purpura fulminans in the first year of life was found to have severe homozygous deficiency of protein C (less than 1% of normal levels). The episodes of purpura fulminans were controlled by infusions of fresh frozen plasma containing protein C. The requirement of frequent plasma infusions, however, eventually resulted in several complications secondary to hyperproteinemia. Factor IX concentrates rich in protein C were then given to maintain adequate levels of the factor while minimizing the amount of extraneous proteins. The patient has remained asymptomatic and free of complications for greater than 10 months while receiving these concentrates every 48 hours.
D001779:Blood Coagulation Factors / Q000627:therapeutic use; D001798:Blood Proteins / Q000172:deficiency*; D005164:Factor IX / Q000627:therapeutic use; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011486:Protein C; D011488:Protein Deficiency / Q000150:complications / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D012871:Skin Diseases / Q000209:etiology; D013927:Thrombosis / Q000209:etiology
D001779:Blood Coagulation Factors; D001798:Blood Proteins; D006023:Glycoproteins; D011486:Protein C; C025667:prothrombin complex concentrates; D005164:Factor IX; D006493:Heparin