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Protein C deficiency

Protein C deficiency
Classification & external resources
ICD-9 289.81
OMIM 176860
DiseasesDB 10807
eMedicine med/1923 
MeSH D020151

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders know as thrombophilias.
The prevalence of protein C deficiency has been estimated to about 0,2% of the general population.

Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 7), whereas no association with arterial thrombotic disease has been found.


The main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII. There are two main types of protein C mutations that lead to protein C deficiency:

  • Type I: Quantitative defects of protein C (low production or short protein half life)
  • Type II: Qualitative defects, in which interaction with other molecules is abnormal. Defects in interaction with thrombomodulin, phospholipids, factors V/VIII and others have been described.

Homozygous protein C mutations often causes a severe thrombotic disorder known as purpura fulminans.protein c deficiency has only had 16 cases before 1999


Primary phrophylaxis with aspirin, heparin or warfarin should be considered in known familial cases.
Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause. Studies have demonstrated an increased risk of recurrent venours thromboembolic events in patients with protein C deficiency. Therefore, long-term anticoagulation therapy with warfarin should be considered in these patients.

Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Protein_C_deficiency". A list of authors is available in Wikipedia.
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