Protein C deficiency: Difference between revisions
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==Treatment== |
==Treatment== |
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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. |
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.<ref>Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov;14(6):1214-21</ref> |
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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. |
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.<ref>Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov;14(6):1214-21</ref> |
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Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.{{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}} |
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Liver transplant may be considered currative for homozygous protein C deficiency. <ref>Pediatr Transplant. 2009 Mar;13(2):251-4. Epub 2008 May 11. |
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Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation.</ref> |
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==External links== |
==External links== |
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Revision as of 05:00, 16 February 2010
| Protein C deficiency | |
|---|---|
| Specialty | Hematology  |
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]
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.[3]
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.[4]
Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.[citation needed]
Liver transplant may be considered currative for homozygous protein C deficiency. [5]
External links
- National Alliance for Thrombosis and Thrombophilia - National Patient organization dedicated to thrombosis and thrombophilia.
References
- ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) PMC 370934 - ^ a b c Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J. 4: 15. doi:10.1186/1477-9560-4-15. PMID 16968541.
{{cite journal}}: CS1 maint: unflagged free DOI (link) PMC 1592479 - ^ Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov;14(6):1214-21
- ^ Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov;14(6):1214-21
- ^ Pediatr Transplant. 2009 Mar;13(2):251-4. Epub 2008 May 11. Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation.
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