Relapsing polychondritis

Title

Other Names:

Chronic atrophic polychondritis; Recurrent polychondritis

Categories:

Immune System Diseases; Kidney and Urinary Diseases

Summary Summary

Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system.^[1]^[2] The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition.^[3]^[4] The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.^[5]^[6]

Last updated: 4/21/2015

Symptoms Symptoms

Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include:^[7]^[1]^[2]

Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia.
Joint: The second most common finding is joint pain with or without arthritis.
Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP.
Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle).
Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed.

Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present.^[2]

In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others.^[7]

Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares.^[7]

Last updated: 4/21/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Arthritis	Very frequent (present in 80%-99% of cases)
Cataract	Very frequent (present in 80%-99% of cases)
Chondritis	Very frequent (present in 80%-99% of cases)
Chondritis of pinna	Very frequent (present in 80%-99% of cases)
Large vessel vasculitis	Very frequent (present in 80%-99% of cases)
Abnormality of the aortic valve	Frequent (present in 30%-79% of cases)
Atelectasis	Frequent (present in 30%-79% of cases)
Cough	Frequent (present in 30%-79% of cases)
Dyspnea	Frequent (present in 30%-79% of cases)
Limitation of joint mobility	Frequent (present in 30%-79% of cases)
Pericarditis	Frequent (present in 30%-79% of cases)
Vertigo	Frequent (present in 30%-79% of cases)
Abnormal pattern of respiration	Occasional (present in 5%-29% of cases)
Abnormality of the endocardium	Occasional (present in 5%-29% of cases)
Alopecia	Occasional (present in 5%-29% of cases)
Anteriorly placed anus	Occasional (present in 5%-29% of cases)
Arthralgia	Occasional (present in 5%-29% of cases)
Biparietal narrowing	Occasional (present in 5%-29% of cases)
Conjunctivitis	Occasional (present in 5%-29% of cases)
Cranial nerve paralysis	Occasional (present in 5%-29% of cases)
Dilatation	Occasional (present in 5%-29% of cases)
Episcleritis	Occasional (present in 5%-29% of cases)
Erythema	Occasional (present in 5%-29% of cases)
Gangrene	Occasional (present in 5%-29% of cases)
Glomerulopathy	Occasional (present in 5%-29% of cases)
Hematuria	Occasional (present in 5%-29% of cases)
Hepatitis	Occasional (present in 5%-29% of cases)
Keratitis	Occasional (present in 5%-29% of cases)
Laryngomalacia	Occasional (present in 5%-29% of cases)
Macule	Occasional (present in 5%-29% of cases)
Myocarditis	Occasional (present in 5%-29% of cases)
Proteinuria	Occasional (present in 5%-29% of cases)
Purpura	Occasional (present in 5%-29% of cases)
Recurrent aphthous stomatitis	Occasional (present in 5%-29% of cases)
Renal insufficiency	Occasional (present in 5%-29% of cases)
Scleritis	Occasional (present in 5%-29% of cases)
Sensorineural hearing impairment	Occasional (present in 5%-29% of cases)
Thrombophlebitis	Occasional (present in 5%-29% of cases)
Uveitis	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

Cause Cause

The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues.^[3] In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors.

There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.^[4]^[6]

Last updated: 4/21/2015

Inheritance Inheritance

Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives.^[6]

Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.^[8]

Last updated: 4/21/2015

Diagnosis Diagnosis

There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features:^[9]

Inflammation of the cartilage of both ears
Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously)
Inflammation of the cartilage of the nose
Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis)
Inflammation of the cartilage of the airway
Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus)

In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.^[9]

Last updated: 4/21/2015

Treatment Treatment

The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab.^[5]^[10]

People who develop severe heart or respiratory complications may require surgery.^[6]

More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.

Last updated: 4/21/2015

Prognosis Prognosis

The long-term outlook (prognosis) for people with relapsing polychondritis (RP) varies from person to person. In general, RP is a chronic and progressive (worsening overtime) condition. Some form of disability is common in the later stages of RP; these may include visual impairment, hearing loss, vestibular dysfunction, and/or cardiopulmonary (heart and lung) disease.^[6]

Severe cases of RP can be life-threatening. Respiratory complications (windpipe collapse and infections) are the most common cause of death followed by cardiovascular (heart and blood vessel) involvement.^[10]

In recent years, improvements have been made in the outcomes of patients with RP. Survival rates have increased from 70% after 5 years, to 94% after 8 years and even 91% after 10 years in a recent study.^[1]

Last updated: 4/21/2015

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Relapsing polychondritis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Relapsing Polychondritis Awareness and Support Foundation has information about how you can take part in a NIH research study. The purpose of this study is to learn more about how RP affects people and collect blood samples for research.

Patient Registry

The Translational Research Program at the Virginia Mason Benaroya Research Institute maintains a Patient Registry for relapsing polychondritis. To learn more, contact the study coordinator Sylvia Posso by calling 206-342-6975.

Organizations 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

Arthritis Foundation
P.O. Box 7669
Atlanta, GA 30357-0669
Toll-free: 800-283-7800
E-mail: http://www.arthritis.org/EMF/email.asp
Website: http://www.arthritis.org
Relapsing Polychondritis Awareness and Support Foundation, Inc (RPASF)
8843 78th St NW
Annandale, MN 55302
Telephone: 320-980-3737
E-mail: admin@polychondritis.org
Website: http://www.polychondritis.org

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Parent and Caregiver Resources

In this NCATS Video Profile, Marcela Ferrada shares her story of living with relapsing polychondritis.

Learn More 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

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
The Merck Manual provides information on this condition for patients and caregivers.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Merck Manual for health care professionals provides information on Relapsing polychondritis.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
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.
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 Relapsing polychondritis. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Relapsing Polychondritis Study
April 5, 2017
New Rare Disease Patient Video Series
July 18, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My mom was diagnosed with relapsing polychondritis about ten years ago. Her's was a very serious condition. I was just wondering if it is genetic. As far as we know I have no other family history of this condition. I just worry for my future and possibly my kids. And also is there any type of genetic tests that can be done to see if I will end up having what my mom has or anything else weird. See answer
I was diagnosed with relapsing polychondritis about a month ago. I would like to know if there are certain foods I should avoid that could trigger the pains associated with this condition. See answer
My wife was diagnosed with relapsing polychondritis over 6 years ago. Her ear flares up about 2-3 times a year. In the beginning it went away on its own; now she takes prednisone but only during the flare. Our doctor says the next step would be methotrexate but before that she'd be on daily prednisone. The disease doesn't seem to be progressing and CT and PET scans indicate no other damage. Is there something more we should be doing such as diet supplements or other medications? Are there other things we should be watching for? See answer

Have a question? Contact a GARD Information Specialist.

References References

Puéchal X, Terrier B, Mouthon L, Costedoat-Chalumeau N, Guillevin L, Le Jeunne C. Relapsing polychondritis. Joint Bone Spine. March 2014; 81(2):118-124.
Clement J Michet, MD. Clinical manifestations of relapsing polychondritis. UpToDate. February 2015; Accessed 4/21/2015.
Relapsing Polychondritis. NORD. March 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/561/viewAbstract.
Clement J Michet, MD. Etiology and pathogenesis of relapsing polychondritis. UpToDate. October 2013;
Relapsing polychondritis. DermNet NZ. December 2013; http://www.dermnetnz.org/dermal-infiltrative/relapsing-polychondritis.html.
Nicholas Compton, MD. Polychondritis. Medscape Reference. March 2015; http://emedicine.medscape.com/article/331475-overview.
Alexandros A. Drosos. Relapsing polychondritis. Orphanet Encyclopedia. October 2004; http://www.orpha.net/data/patho/GB/uk-RP.pdf. Accessed 12/19/2011.
Autoimmune diseases fact sheet. Office of Women's Health. July 2012; http://womenshealth.gov/publications/our-publications/fact-sheet/autoimmune-diseases.html#c.
Clement J Michet, MD. Diagnostic evaluation of relapsing polychondritis. UpToDate. January 2015; Accessed 4/21/2015.
Relapsing polychondritis. Orphanet. July 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728.