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Epidemiology of SCPCD

Incidence and prevalence

Severe Congenital Protein C (PC) Deficiency is a rare, autosomal recessive disorder,1 and estimates of its incidence and prevalence vary.


The predicted prevalence of SCPCD is low, ranging from 1 in 40,000 to 250,000 people.3

Potential explanations for the low number of identified individuals include high fœtal mortality, death before diagnosis, under-diagnosis and under-reporting.1,3

Consanguinity, highly prevalent in the Middle East, Northern Africa and South and Western Asia,4 seems to play an important role in the incidence of SCPCD. Children born of consanguineous parents have a significantly higher risk of developing some genetic diseases compared with children born of non-consanguineous unions.5,6 Parental consanguinity is a common factor associated with people suffering from SCPCD.1


  1. Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–1221.

  2. Marlar RA, Mastovich S. Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment.  Blood Coagul Fibrinolysis. 1990;1(3):319-330.

  3. Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.

  4. Bener A, Mohammad RR. Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population. Egyptian Journal of Medical Human Genetics. 2017;18(4):315-320.

  5. Shawky RM, et al. Consanguinity and its relevance to clinical genetics. Egyptian Journal of Medical Human Genetics. 2013;14(2):157–164.

  6. Tadmouri GO, et al. Consanguinity and reproductive health among Arabs. Reproductive Health. 2009;6(17):1–9.


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