Rare Endocrinology News

Disease Profile

Takayasu arteritis

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 organs of the body. Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.[1]

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
Anemia
Low number of red blood cells or hemoglobin
0001903
Anorexia
0002039
Arthritis
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 cardiomyopathy
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 hypertension
Increased blood pressure in blood vessels of lungs
0002092
Seizure
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
Autosomal recessive inheritance
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

    The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (antitumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended.

    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.

    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

      Organizations Providing General Support

        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

            1. Takayasu’s Arteritis. Vasculitis Foundation. 2006; https://www.vasculitisfoundation.org/education/forms/takayasus-arteritis/. Accessed 11/1/2013.
            2. 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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