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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
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Your Question

Is protein C deficiency inherited from your mother or father?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is protein C deficiency?

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

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]

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.[3]
Last updated: 8/6/2015

How is protein C deficiency inherited?

Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. People who inherit two mutated copies of the gene have severe protein C deficiency.[1]
Last updated: 8/6/2015

References
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.