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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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Overview

Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots due to a deficiency of the Protein C, a protein in the body that prevents blood clotting.[1][2] It may be inherited or acquired. Inherited deficiency of protein C can lead to familial thrombophilia (increased tendency toward thrombosis). It is caused by mutations in the PROC gene, and in most cases is transmitted in an autosomal dominant way; a few people inherit an abnormal allele from both parents and may have a more severe disease (please see autosomal recessive protein C deficiency) because they have very low levels of active protein C. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), vitamin K deficiency, use of warfarin or certain types of chemotherapy.[3] [2] While most people with protein C deficiency do not have problems, some are at risk for a type of clot called deep vein thrombosis (DVT), which can travel through the bloodstream and become stuck in the lung, causing pulmonary embolism. Also, abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Treatment depend on the symptoms severity. Most people do not need any treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated.[1][3]
Last updated: 6/7/2017

References

  1. Congenital protein C or S deficiency. MedlinePlus. February 8, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000559.htm.
  2. Bauer KA. Protein C deficiency. UpToDate. May 11, 2016; http://www.uptodate.com/contents/protein-c-deficiency.
  3. Cuker A, Pollak ES. Protein C Deficiency. Medscape Reference. January 21, 2016; http://emedicine.medscape.com/article/205470-overview#showall.
  4. Protein C deficiency. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/protein-c-deficiency.
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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 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.