Protein C deficiency

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.

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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.

Pathophysiology

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

Treatment

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.