Epidemiology of SCPCD

Incidence and prevalence

Severe Congenital Protein C Deficiency (SCPCD) 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

References:

Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–1221.
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.
Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.
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.
Shawky RM, et al. Consanguinity and its relevance to clinical genetics. Egyptian Journal of Medical Human Genetics. 2013;14(2):157–164.
Tadmouri GO, et al. Consanguinity and reproductive health among Arabs. Reproductive Health. 2009;6(17):1–9.

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Epidemiology of SCPCD

Incidence and prevalence

Interested in Severe Congenital Protein CDeficiency (SCPCD) and its management?Sign up below!

Interested in Severe Congenital Protein C
Deficiency (SCPCD) and its management?
Sign up below!