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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 congenital protein C deficiency
  • Hereditary thrombophilia due to PC deficiency
  • 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.

Overview

Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner.[1] Treatment includes the use of blood-thinning drugs to treat and prevent blood clots.[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. Congenital protein C or S deficiency. MedlinePlus. February 8, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000559.htm.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Protein C deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • LabTests Online provides information on testing protein C levels in general. Click on LabTests Online to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Protein C deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hereditary thrombophilia due to congenital protein C deficiency
  • Hereditary thrombophilia due to PC deficiency
  • 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.