What is protein C deficiency?
Protein C deficiency can be caused by mutation of the protein C gene (congenital protein C deficiency) or as a result of other conditions (acquired protein C deficiency).1,2 The severity of the deficiency is determined by the remaining plasma activity of protein C.1
Severe Congenital Protein C Deficiency is an autosomal recessive, rare disorder that leads to high initial mortality and long-term morbidity in survivors.1,2 In neonates, SCPCD can manifest, as early as 2-12 hours after birth, as purpura fulminans with necrosis of the skin, disseminated intravascular coagulation, arterial and venous thrombosis.1-3
The severity of protein C deficiency is based on protein C activity
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References:
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Knoebl PN. Blood coagulation and inflammation in critical illness: the importance of the protein C pathway. UNI-MED Verlag; 2008.
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Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–1221.
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Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.