Protein C deficiency 4093279 221349588 2008-06-24T03:38:17Z Buckethed 5892093 Spelling fix {{Infobox_Disease | Name = {{PAGENAME}} | Image = | 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 [[thrombosis|thrombotic disease]]. It was first described in 1981.<ref name="pmid6895379">{{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}}</ref> The disease belongs to a group of genetic disorders known as [[thrombophilia]]s. 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 [[thrombosis|venous thromboembolism]] (relative risk 8-10), whereas no association with arterial thrombotic disease has been found.<ref name="pmid16968541">{{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}}</ref> ==Pathophysiology== The main function of [[protein C]] is its anticoagulant property as an inhibitor of coagulation factors [[factor V|V]] and [[factor VIII|VIII]]. There are two main types of protein C mutations that lead to protein C deficiency:<ref name="pmid16968541"/> * '''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.<ref name="pmid16968541"/> ==Treatment== Primary phrophylaxis 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== {{reflist}} {{Hematology}} [[Category:Hematology]] [[pl:Wrodzony niedobór białka C]]