Takayasu Arteritis

Diseases of the immune system Vasculitis

Rare Disease Classifications:

ORPHA:3287 Takayasu arteritis

ICD-11: 4A44.1 Aortic arch syndrome

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Emergency Management

There may be special considerations for the emergency management of individuals living with Takayasu arteritis.

It is notable that in emergencies, a pulse could be difficult to find. People with Takayasu arteritis also have an increased risk of heart attack and stroke.²

Clinical Care Guidelines

We are not aware of any clinical care guidelines for Takayasu arteritis in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

Synonyms

TAK, TA, Takayasu disease, Aortic arch syndrome, Young female arteritis, Pulseless disease

Summary

Takayasu arteritis is a type of vasculitis, a condition involving inflammation of blood vessels.^1,3 In Takayasu arteritis, the main blood vessel leaving the heart (aorta) and/or its major branches become inflamed. This inflammation causes the blood vessels to thicken and narrow (arterial stenosis), which reduces blood flow around the body. As a result of the impaired blood supply, various organs are unable to function properly and become damaged. The extent of organ damage and symptoms depends on where the inflammation occurs, and how narrow the blood vessels become.⁴

In the early stages of the disease, individuals may feel generally unwell with aches, tiredness and fever.^3,5,6As the disease worsens (progresses), symptoms may include serious limb pains, high blood pressure, chest pains and headaches. Complications such as stroke or heart failure may occur if blood flow to the brain or heart are affected.^7,8 Progression of the disease can be limited with medications, although surgery is sometimes required to fix blood vessels that are severely narrowed or blocked.

Takayasu arteritis is more common in females, but it can also affect males.⁶ As women with Takayasu arteritis may be at risk of complications during pregnancy, they are recommended to talk to a medical professional when planning and to manage their pregnancy.⁹

Useful Links for Professionals

Orphanet: Takayasu arteritis

Online Mendelian Inheritance in Man (OMIM): #207600, Takayasu Arteritis

Human Phenotype Ontology (HPO): Takayasu arteritis

Personal Stories

Takayasu arteritis varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.

Symptoms

The symptoms and severity of Takayasu arteritis can vary widely between individuals. The symptoms often (but not always) occur in two phases:

Inflammatory Phase (also known as the ‘pre-pulselessness’ phase)

This first phase is often only recognised in hindsight as the symptoms are similar to many common illnesses. Symptoms frequently include ‘flu-like’ aches, fevers and tiredness, as well as possible weight loss, night sweats, and mild iron deficiency (anaemia).^3-6People with Takayasu arteritis may experience recurring bouts of these symptoms, although this is not the case for everyone.

Chronic Phase (also known as the ‘pulseless phase’)

These symptoms may occur after the inflammatory phase, or at the same time, and may include:^3-6

chest pain
light headedness or dizziness
no pulse at wrists and/or other locations
tired, sore or numb arms and/or legs when moving (claudication)
headache or migraine
blurred vision, double vision, or vision loss
skin sores (ulcerated lesions)
High blood pressure (hypertensive crisis), in particular affecting the lungs (renal hypertension) and/or kidneys (pulmonary hypertension)
blood pressure that is higher in legs than in arms
vascular bruit or murmur (whooshing sound over an artery) in the neck or abdomen
narrowing and/or closure of blood vessels (arterial stenosis)
abnormal heart valve shape (morphology)

There may be life-threatening complications associated with Takayasu arteritis, such as brief or complete loss of blood supply to the brain (mini-stroke or stroke), heart failure, and heart attack.^2,5

Please speak to your medical team to learn more about the symptoms and complications of Takayasu arteritis.

Cause/Inheritance

The cause of blood vessel inflammation in Takayasu arteritis is unknown; however, there are suggestions that it may be an autoimmune condition.^3,10 Autoimmunity occurs when the immune system, mistakenly targets and attacks the body’s own cells.¹¹

Diagnosis

There is no genetic test or blood test can definitively diagnose Takayasu arteritis.^3,6,12Diagnosis is based on a thorough clinical history, physical examination (such as taking of blood pressure and feeling for pulse), and imaging of blood vessels. The type of imaging that is used may vary depending upon an individual’s symptoms and risk factors. In most cases these scans are not invasive and may include magnetic resonance angiogram (MRA), computed tomography angiogram (CTA), or Doppler ultrasound (CDUS).^3,6,12

More information about angiography scans can be found at:
NSW Health: MRI Magnetic Resonance Angiography (MRA)
NSW Health: CT Angiography

There are many diseases with similar symptoms to Takayasu arteritis. Differential diagnosis should be performed to exclude diagnosis of:^3,4,6

pulmonary artery hypertension
atherosclerosis
other diseases involving inflamed aorta (aortitis) (such as syphilis, tuberculosis, lupus, rheumatoid arthritis, spondyloarthropathies, Behçet’s disease, Kawasaki disease, giant cell arteritis, IG4 related aortitis)
developmental abnormalities affecting the aorta and blood vessels (such as coarctation of the aorta, Marfan syndrome, fibromuscular dysplasia)

Please speak to your medical team to learn more about the available diagnostic pathways for Takayasu arteritis.

Treatment

There is no curative treatment for Takayasu arteritis but there are strategies to manage the symptoms and disease progression, which may involve a multidisciplinary medical team. The primary aim of the treatment is to prevent further blood vessel inflammation to stop the disease from worsening. Management strategies may involve:^5,12

corticosteroid medication to reduce inflammation
medication that suppresses the immune system (immunosuppressive drugs)
biologic medications which inhibit certain inflammatory pathways in the body

Where medications are insufficient, surgery may be necessary to repair blood vessels that are critically narrowed (stenosed) or blocked (occluded) to reduce the risk of stroke, heart failure, critically high blood pressure (hypertension), or severe limb pain.^9,2

Please speak with your medical team to learn more about the available management strategies for Takayasu arteritis and its associated complications. Treatment will depend on an individual’s specific symptoms.

Clinical Care

Healthcare professionals involved in the treatment of Takayasu arteritis may include general practitioners (GP), rheumatologists, cardiologists and vascular surgeons.^1,5,10 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Research

Please visit Australian Clinical Trials to learn about clinical trials for Takayasu arteritis in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for Takayasu arteritis in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Australia and New Zealand Vasculitis Society (ANZVASC)RVA Partner Australian Organisation
Website: https://www.anzvasculitis.org/
Contact form: https://www.anzvasculitis.org/contact-us/

The Australian and New Zealand Vasculitis Society (ANZVASC) is a collaborative organisation of physicians, scientists, and communities that focuses on research, education, and clinical practices in vasculitis.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Australia and New Zealand Vasculitis Society (ANZVASC): Patient Support lists a range of support resources for individuals with vasculitis.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on Takayasu arteritis can be found at:

References

Australia and New Zealand Vasculitis Society (ANZVASC). Vasculitis types. Accessed 5 August 2024. https://www.anzvasculitis.org/vasculitis-types/
Tian X, Zeng X. Chinese guideline for the diagnosis and treatment of Takayasu’s arteritis (2023). Rheumatol Immunol Res. 2024;5(1):5-26. https://doi.org/10.1515%2Frir-2024-0002
Trinidad B, Surmachevska N, Lala V. Takayasu Arteritis. Updated 8 August 2023. In: StatPearls [internet]. Treasure Island (FL): StatPearls Publishing; 2024. Accessed 8 August 2024. https://www.ncbi.nlm.nih.gov/books/NBK459127/
Johnston SL, Lock RJ, Gompels MM. Takayasu arteritis: a review. J Clin Pathol. 2002;55(7):481-6. Accessed 8 August 2024 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1769710/
Vasculitis Foundation. About Takayasu Arteritis. Accessed 12 August 2024 https://www.vasculitisfoundation.org/education/vasculitis-types/takayasu-arteritis/.
Orphanet. Takayasu arteritis. Updated April 2019. Accessed 2 August 2024. https://www.orpha.net/en/disease/detail/3287?name=4A44.1&mode=icd11.
healthdirect Australia. Stroke. Updated March 2023. Accessed: 9 August 2024. https://www.healthdirect.gov.au/stroke
healthdirect Australia. Heart Failure. Updated January 2023. Accessed: 9 August 2024. https://www.healthdirect.gov.au/heart-failure.
Isselbacher EM, Preventza O, Hamilton Black J, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022;146(24):e334-e482. https://doi.org/10.1161/CIR.0000000000001106
Genetic and Rare Diseases (GARD) Information Center. Takayasu arteritis. Updated July 2024. Accessed: 12/8/202 https://rarediseases.info.nih.gov/diseases/7730/takayasu-arteritis/
Australian Society of Clinical Immunology and allergy (ASCIA). Vasculitis Disorders: Frequently Asked Questions. Updated March 2024. Accessed 9 August 2024 https://www.allergy.org.au/patients/autoimmunity/vasculitis-disorders.
Maz M, Chung SA, Abril A, Langford CA, Gorelik M, Guyatt G, et al. 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Giant Cell Arteritis and Takayasu Arteritis. Arthritis & Rheumatology. 2021;73(8):1349-65. https://doi.org/10.1002/art.41774

Page Last Updated

20/08/2024 11:56

Diseases of the immune system Vasculitis