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Disease Profile
Protein C deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Autosomal recessive thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Severe hereditary thrombophilia due to congenital protein C deficiency
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the eye |
Abnormal eye
|
0000478 |
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
0000006 | ||
Cerebral venous thrombosis |
Blood clot in cerebral vein
|
0005305 |
Deep venous thrombosis |
Blood clot in a deep vein
|
0002625 |
Hypercoagulability | 0100724 | |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Reduced |
0005543 | |
Superficial thrombophlebitis | 0002638 | |
Warfarin-induced skin necrosis | 0001038 |
Cause
Inherited protein C deficiency is caused by
- Type I deficiency: When people in the family have only one mutated copy of the gene (
heterozygous ) they typically have levels that are about one half that of normal patient plasma. Some families have a severe form of the disease and some do not have any symptoms even when they have the same mutation. - Type II deficiency: Type II protein C deficiency is less common than type I disease, and is associated with decreased function of protein C.
When people have two copies of the altered gene (
Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of
Diagnosis
Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
A protein C concentrate (Ceprotin®) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.[7]
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Protein C concentrate(Brand name: Ceprotin) Manufactured by Shire Human Genetics Therapies, Inc.
FDA-approved indication: Prevention and treatment of venous thrombosis and purpura fulminans.
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
National Blood Clot Alliance
8321 Old Courthouse Road
Suite 255
Vienna, VA 22182
Toll-free: 1-877-466-2568 (877-4NO-CLOT)
Telephone: +1-703-935-8845
E-mail: [email protected]
Website: https://www.stoptheclot.org/
Organizations Providing General Support
-
Clot Connect
c/o Dr Stephan Moll
University of North Carolina School of Medicine
CB 7035
Chapel Hill, NC 27599
E-mail: https://clotconnect.wpcomstaging.com/contact/
Website: https://clotconnect.wpcomstaging.com/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Protein C deficiency. This website is maintained by the National Library of Medicine.
- LabTests Online provides information on testing protein C levels in general. Click on LabTests Online to view the information page.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Protein C deficiency. Click on the link to view a sample search on this topic.
References
- Congenital protein C or S deficiency. MedlinePlus. February 8, 2012; https://www.nlm.nih.gov/medlineplus/ency/article/000559.htm.
- Bauer KA. Protein C deficiency. UpToDate. May 11, 2016; https://www.uptodate.com/contents/protein-c-deficiency.
- Cuker A, Pollak ES. Protein C Deficiency. Medscape Reference. January 21, 2016; https://emedicine.medscape.com/article/205470-overview#showall.
- Protein C deficiency. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/condition/protein-c-deficiency.
- Protein C and Protein S. Lab Tests Online. March 2011; https://labtestsonline.org/understanding/analytes/protein-c-and-s/tab/test. Accessed 9/20/2011.
- Congenital protein C or S deficiency. MedlinePlus. March 2010; https://www.nlm.nih.gov/medlineplus/ency/article/000559.htm. Accessed 9/20/2011.
- Protein C Deficiency. Clot Connect. June 2011; https://clotconnect.wordpress.com/2011/06/15/protein-c-deficiency/. Accessed 9/20/2011.
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