Protein C deficiency: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
Raviteja Reddy Guddeti (talk | contribs)
nocaptcha
20,348 edits
No edit summary
Charmaine Patel (talk | contribs)
nocaptcha
14,570 edits
No edit summary
Line 12: Line 12:
   MeshID        = D020151 |
   MeshID        = D020151 |
}}
}}
{{SI}}
{{Protein C deficiency}}


'''For patient information click [[Congenital protein C or S deficiency (patient information)|here]]'''
'''For patient information click [[Congenital protein C or S deficiency (patient information)|here]]'''
Line 18: Line 18:
{{CMG}}
{{CMG}}


==Overview==
==[[Protein C deficiency overview|Overview]]==
'''Protein C deficiency''' is a rare genetic trait that predisposes to [[thrombosis|thrombotic disease]]. It was first described in 1981. The disease belongs to a group of genetic disorders know as [[thrombophilia]]s.<br>The prevalence of protein C deficiency has been estimated to about 0,2% of the general population.


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.
==[[Protein C deficiency historical perspective|Historical Perspective]]==


==Pathophysiology==
==[[Protein C deficiency pathophysiology|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:
* '''Type I''': ''Quantitative'' defects of protein C (low production or short protein halflife)
*'''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]].proteinc defiency has only had 16 caes before 1999
==[[Protein C deficiency causes|Causes]]==
 
==[[Protein C deficiency differential diagnosis|Differentiating Protein C deficiency from other Diseases]]==
 
==[[Protein C deficiency epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[Protein C deficiency risk factors|Risk Factors]]==
 
==[[Protein C deficiency natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
==Diagnosis==
*Laboratory tests will be done to check for proteins C and S. If you have this disorder, you will have a lack of protein C or S.
[[Protein C deficiency history and symptoms|History and Symptoms]] | [[Protein C deficiency physical examination|Physical Examination]] | [[Protein C deficiency laboratory findings|Laboratory Findings]] | [[Protein C deficiency other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
 
[[Protein C deficiency medical therapy|Medical Therapy]] | [[Protein C deficiency cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Protein C deficiency future or investigational therapies|Future or Investigational Therapies]]
 
==Case Studies==
[[Protein C deficiency case study one|Case #1]]
 
 


*Other tests that may be done include:
:*[[Bleeding time]]
:*[[Partial thromboplastin time]]
:*[[Prothrombin time]]
:*[[Thrombin time]]


==Treatment==
Primary phrophylaxis with aspirin, heparin or warfarin should be considered in known familial cases.<br>
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.


==References==
{{Reflist|2}}


{{Hematology}}
{{Hematology}}

Revision as of 16:16, 21 September 2012

Protein C deficiency
ICD-9 289.81
OMIM 176860
DiseasesDB 10807
MedlinePlus 000559
MeSH D020151

Template:Protein C deficiency

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Protein C deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1




Template:Hematology

Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Protein_C_deficiency&oldid=749468"