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Protein C deficiency
Classification and 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.[1] The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8-10), whereas no association with arterial thrombotic disease has been found.[2]

Contents

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:[2]

  • 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.

The majority of people with protein C deficiency lack only one of the functioning genes, and are therefore heterozygous. Before 1999, only sixteen cases of homozygous protein C deficiency had been described (two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream). This may manifest itself as purpura fulminans in the newborn.[2]

Treatment

Primary prophylaxis with aspirin, heparin or warfarin is often 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 may be considered in these patients.

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

External links

References

  1. ^ Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C (1981). "Deficiency of protein C in congenital thrombotic disease". J. Clin. Invest. 68 (5): 1370–3. doi:10.1172/JCI110385. PMID 6895379.   Full text at PMC: 370934
  2. ^ a b c Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J 4: 15. doi:10.1186/1477-9560-4-15. PMID 16968541. http://www.thrombosisjournal.com/content/4/1/15.   Full text at PMC: 1592479
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