Relapsing polychondritis is an autoimmune condition characterised by repeated (recurrent) inflammation of the cartilage in the body, which can lead to pain, swelling and organ damage over time.^1-9 Cartilage is a connective tissue that provides flexibility, cushions joints, and supports body structures. It is found at the ends of many bones in joints, as well as in the ears and nose.¹⁰ Relapsing polychondritis most commonly affect the ears, joints, eyes, nose, and respiratory tract. Other parts of the body such as the heart, kidney, skin, and nervous system may also be affected.⁴ The cause of the cartilage inflammation is not well understood. Some individuals with relapsing polychondritis also have other autoimmune conditions.¹

Synonyms: Polychondropathis, generalized or systemic chondromalocia, chronic polychondritis, von Meyenburg’s disease, Meyenburg-Altherr-Uehlinger syndrome.^2,3,5

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:728 Relapsing polychondritis

ICD-11 FB82.3 Relapsing polychondritis

Relapsing polychondritis can cause a wide range of symptoms, depending on where the cartilage is inflamed. Symptoms tend to come and go, and may worsen over time.⁶

Symptoms of relapsing polychondritis may include:^1,3,4,7,8

Please speak to your medical team to learn more about the symptoms and complications of relapsing polychondritis.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Relapsing polychondritis is an autoimmune condition, where the body’s immune system mistakenly attack its own cartilages. What causes the autoimmune response is not well understood. It is suggested that a combination of genetic factors, and triggers (such as infections, chemical, toxic exposure, or direct trauma) may contribute to this condition.^8,9

Diagnosis of relapsing polychondritis may be made based on:^1,8,9

• Medical history
• Physical examination to look for signs of cartilage inflammation
• Imaging such as MRI or CT scans
• Tissue biopsy, usually taken from cartilage on the ear or nose
• Blood tests to look for auto-antibodies (antibodies that attack the body’s own cells) and/or inflammatory markers

As part of the diagnosis process, doctors may rule out other conditions that have similar symptoms (differential diagnosis), such as granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, Behçet disease, and leprosy.¹

Please speak to your medical team to learn more about the available pathways for diagnosis of relapsing polychondritis.

There is currently no curative treatment for relapsing polychondritis. Treatment is targeted at managing symptoms and involves a multidisciplinary care team. This may include:^1,2,6,8

• non-steroidal anti-inflammatory drugs (NSAIDs) to treat localised inflammation
• corticosteroid drug to reduce inflammation when multiple organs are involved
• immunosuppressive agents to reduce autoimmune response and inflammation
• management of airways

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the care of individuals with relapsing polychondritis may include general practitioners (GP), rheumatologists, ophthalmologists, nephrologists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

For individuals living with persistent or chronic pain, care pathways may include referral to pain clinics or pain management services. Palliative care services also provide resources, support and tools to help people manage their pain, and may be relevant for some people living with chronic pain. Please speak to your GP about the suitability and possibility of referral to these services.

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

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

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

Australian Organisation:
We are not aware of any rare disease organisations for relapsing polychondritis in Australia. If you are aware of any relevant Australian organisations, please let us know via the Contribute page.

International Organisations:
Relapsing Polychondritis Foundation (United States of America)
Website: https://polychondritis.org/

Relapsing Polychondritis Awareness & Support (United Kingdom)
Website: https://www.relapsingpolychondritis.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Relapsing polychondritis varies between individuals, and each person’s experience is unique.

Personal story shared with RVA: Lucy’s story.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

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.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on relapsing polychondritis can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Relapsing polychondritis
• National Organization for Rare Disorders (NORD): Relapsing polychondritis

StatPearls: Relapsing Polychondritis

Orphanet: Relapsing polychondritis

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

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.