Protein C deficiency

Protein C deficiency

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 10807
ICD10 =
ICD9 = ICD9|289.81
ICDO =
OMIM = 176860
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 1923
MeshID = D020151

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981.cite journal |author=Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C |title=Deficiency of protein C in congenital thrombotic disease |journal=J. Clin. Invest. |volume=68 |issue=5 |pages=1370–3 |year=1981 |pmid=6895379 |doi=10.1172/JCI110385 PMC|370934] 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.cite journal |author=Khan S, Dickerman JD |title=Hereditary thrombophilia |journal=Thromb J |volume=4 |issue= |pages=15 |year=2006 |pmid=16968541 |doi=10.1186/1477-9560-4-15 |url=http://www.thrombosisjournal.com/content/4/1/15 PMC|1592479]

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.

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.

Treatment

Primary prophylaxis with aspirin, heparin or warfarin is often be considered in known familial cases. Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause.fact|date=April 2008

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.fact|date=April 2008

Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.fact|date=April 2008

References


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