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Diseases

Genetic and Rare Diseases Information Center (GARD)

Protein C deficiency

*

* Not a rare disease

Other Names for this Disease
  • Hereditary thrombophilia due to protein C deficiency
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Cause

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What causes protein C deficiency?

Protein C deficiency can be inherited or acquired later in life.

Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form.[1] The mutations are divided into 2 types — type I and type II — on the basis of whether they cause to have lower levels of protein C in the blood (type I) or a functional (type II) deficiency of protein C.
  • Type I deficiency: When people in the family have only one mutated copy of the gene (heterozygous) they typically have levels that are about one half that of normal patient plasma. Some families have a severe form of the disease and some do not have any symptoms even when they have the same mutation.
  •  Type II deficiency: Type II protein C deficiency is less common than type I disease, and is associated with decreased function of protein C. 
When people have two copies of the altered gene (homozygous) or have two different mutations in each copy of the gene (heterozygous) the disease is very severe and protein C deficiency is classically associated with neonatal purpura fulminans (NPF); intracranial thromboembolism may also occur in babies. Some patients present with venous thromboembolism (VTE) in childhood or adolescence.

Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.[2]
Last updated: 8/6/2015

References
  1. Protein C deficiency. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/protein-c-deficiency.
  2. Cuker A, Pollak ES. Protein C Deficiency. Medscape Reference. January 21, 2016; http://emedicine.medscape.com/article/205470-overview#showall.


Other Names for this Disease
  • Hereditary thrombophilia due to protein C deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.