Protein C deficiency

Protein C deficiency is a rare genetic disorder characterized by an increased risk of developing abnormal blood clots due to a deficiency of the protein C, a protein in the body that prevents blood clotting.

Pronunciation

Protein C deficiency is pronounced as proh-teen see deh-fish-en-see.

Etymology

The term "Protein C deficiency" is derived from the name of the protein (Protein C) that is deficient in individuals with this condition. Protein C was so named because it was the third protein ("C") discovered to be part of the blood clotting process.

Symptoms

People with Protein C deficiency may experience deep vein thrombosis, pulmonary embolism, and, in severe cases, disseminated intravascular coagulation.

Causes

Protein C deficiency is caused by mutations in the PROC gene, which provides instructions for making protein C.

Diagnosis

Diagnosis of Protein C deficiency is often made through a series of blood tests, including a coagulation screen and a specific test for protein C activity.

Treatment

Treatment for Protein C deficiency typically involves the use of anticoagulant medications, such as warfarin, to prevent the formation of blood clots.

Related Terms

• Thrombophilia
• Anticoagulant
• Blood clot
• Venous thromboembolism

External links

• Medical encyclopedia article on Protein C deficiency
• Wikipedia's article - Protein C deficiency

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