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Disease Profile
Takayasu arteritis
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.
1-9 / 100 000
Age of onset
Adult
ICD-10
M31.4
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)
TA; Young female arteritis; Takayasu disease;
Categories
Blood Diseases; Kidney and Urinary Diseases; RDCRN
Summary
Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Fever | 0001945 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hypertensive crisis | 0100735 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Abnormal pattern of respiration |
Abnormal respiratory patterns
Unusual breathing patterns
[ more ] |
0002793 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Anorexia | 0002039 | |
Joint inflammation
|
0001369 | |
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
Chest pain | 0100749 | |
Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Inflammatory abnormality of the eye | 0100533 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Muscle weakness |
Muscular weakness
|
0001324 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Myocardial infarction |
Heart attack
|
0001658 |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
0001250 | ||
Skin ulcer |
Open skin sore
|
0200042 |
5%-29% of people have these symptoms | ||
Abnormal endocardium morphology | 0004306 | |
Amaurosis fugax | 0100576 | |
Arthralgia |
Joint pain
|
0002829 |
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 |
Gastrointestinal infarctions |
Death of digestive organ tissue due to poor blood supply
|
0005244 |
Hemoptysis |
Coughing up blood
|
0002105 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Reduced consciousness/confusion |
Disturbances of consciousness
Lowered consciousness
[ more ] |
0004372 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Percent of people who have these symptoms is not available through HPO | ||
Arteritis |
Inflammation of artery
|
0012089 |
0000007 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis of TAK is very broad and may include other inflammatory diseases (atherosclerosis, giant cell arteritis, IgG4 related aortitis), infectious aortitis and fibromuscular dysplasia.
Visit the Orphanet disease page for more information.
|
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
-
Vasculitis Foundation
P.O. Box 28660
Kansas City, MO 64188
Toll-free: 1-800-277-9474
Telephone: +1-816-436-8211
Fax: +1-816-656-3838
E-mail: https://www.vasculitisfoundation.org/contact-us-2/
Website: https://www.vasculitisfoundation.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
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.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The Johns Hopkins Vasculitis Center has created an information page on Takayasu arteritis. To view the Web page, click on the link.
- The Vasculitis Foundation has a Web page on Takayasu arteritis which can be accessed by clicking on the link.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Takayasu arteritis. Click on the link to view a sample search on this topic.
References
- Takayasu’s Arteritis. Vasculitis Foundation. 2006; https://www.vasculitisfoundation.org/education/forms/takayasus-arteritis/. Accessed 11/1/2013.
- Jefferson R Roberts. Takayasu Arteritis Treatment and Management. December 08, 2014; https://emedicine.medscape.com/article/332378-treatment. Accessed 12/4/2015.
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