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Relapsing Polychondritis

NORD is very grateful to Naveed Younis, MD, Consultant Physician, Department of Medicine, University Hospital of South Manchester, Wythenshawe Hospital, United Kingdom, for assistance in the preparation of this report.

Synonyms of Relapsing Polychondritis

  • chronic atrophic polychondritis
  • generalized or systemic chondromalocia
  • Meyenburg-Altherr-Uehlinger syndrome
  • relapsing perichondritis
  • von Meyenburg disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Relapsing polychondritis is a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body. Deterioration of the cartilage may affect any site of the body where cartilage is present. Ears, larynx and trachea may become "floppy," and the bridge of the nose can collapse into a "saddlenose" shape. The aortic heart valve may also be affected.

Symptoms

Symptoms of relapsing polychondritis usually begins with the sudden onset of pain, tenderness and swelling of the cartilage of one or both ears. This inflammation may spread to the fleshy portion of the outer ear causing it to narrow. Attacks may last several days to weeks before subsiding. Middle ear inflammation can cause obstruction of the eustachian tube. Recurrent attacks may lead to hearing loss.

Nasal Chondritis may be marked by cartilage collapse at the bridge of the nose resulting in a saddlenose deformity, nasal stuffiness or fullness and crusting.

Inflammation of both large and small joints can occur. Classic symptoms of pain and swelling are similar to those of arthritis.

Involvement of the cartilage of the larynx and bronchial tubes may cause breathing and speech difficulties.

Heart valve abnormalities may occur.

Relapsing polychondritis may also cause kidney inflammation and dysfunction.

Causes

The exact cause of relapsing polychondritis is not known. It is thought to be an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses against "foreign" or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases may be linked to abnormal reactions by blood cells (serum antibodies), to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or thyroid. Symptoms of relapsing polychondritis may arise when autoantibodies attack human cartilage.

Some researchers believe that relapsing relapsing polychondritis may be caused by an immunologic sensitivity to type II collagen, a normal substance found in skin and connective tissue.

Affected Populations

Relapsing polychondritis affects males and females in equal numbers. Symptoms usually begin between forty and sixty years of age.

Related Disorders

Symptoms of the following disorders can be similar to those of relapsing polychondritis. Comparisons may be useful for a differential diagnosis:

Rheumatoid arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years.

Osteoarthritis is a degenerative joint disease of unknown origin characterized by loss of cartilage, deformities of bones with joints, and extra cartilage and bone growth at the joint margins with subsequent bony enlargement. Osteoarthritis develops when cartilage repair does not keep pace with degeneration. It may occur as a result of trauma to the bony or underlying joint disease.

Behcet syndrome is an inflammatory disorder affecting a number of organs. The most constant symptom is of oral and genital ulcers. Eye and joint inflammation, similar to Polychondritis, occurs. Blood vessels, the central nervous system, and the gastrointestinal tract may also be involved. Attacks last a week to a month, and can recur spontaneously. Some symptoms can appear as late as several years after onset of the disease which usually occurs between age 20 and 30. Twice as many men as women are affected. The disease is most common in the Middle East and Japan. For more information on the above disorder, choose "Behcet" as your search term in the Rare Disease Database.

Standard Therapies

Treatment of relapsing polychondritis usually involves the administration of corticosteroid drugs (e.g., prednisone), aspirin and non-steroidal anti-inflammatory compounds such as dapsone and/or colchicine. In extreme cases, drugs that suppress the immune system such as cyclophosphamide, 6-mercaptopurine and azathioprine may be recommended. In the most severe cases replacement of heart valves or the insertion of a breathing tube (tracheotomy) for collapsed airways may be necessary.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Some cases of relapsing polychondritis may go into remission after use of the immune suppressing drug cyclosporine-A. However, more research is necessary to determine complete safety and effectiveness of this treatment.

In the medical literature, there is a report of a child with relapsing polychondritis whose symptoms improved after treatment with type II collagen (CII). More research is necessary to determine the effectiveness and long-term safety of this potential treatment for relapsing polychondritis.

Organizations related to Relapsing Polychondritis

References

TEXTBOOKS
Stein, JH, ed. Internal Medicine. 4th ed. St. Louis, MO:Mosby-Year Book, Inc.; 1994:2406, 2465.

Kelley WN, et al., eds. Textbook of Rheumatology. 4th ed. Philadelphia, PA: W.B. Saunders Company; 1993:1400-09.

JOURNAL ARTICLES
Navarro MJ, et al. Amelioration of relapsing polychondritis in a child treated with oral collagen. Am J Med Sci. 2002;324:101-3.

Letko E, et al. Relapsing polychondritis: a clinical review. Semin Arthritis Rheum. 2002;31:384-95.

Balsa-Criado A, et al. Cardiac involvement in relapsing polychondritis. Int J Cardiol. 1987;14:381-83.

Michet CJ, et al. Relapsing polychondritis. Survival and predictive role of early disease manifestations. Ann Intern Med. 1986;104:74-78.

Krell WS, et al. Pulmonary function in relapsing polychondritis. Am Rev Respir Dis. 1986;133:1120-23.

INTERNET
Compton N. Polychondritis. Emedicine. http://emedicine.medscape.com/article/331475-overview. Updated January 19, 2012. Accessed February 15, 2012.

Genetic and Rare Diseases Information Center (GARD). Relapsing polychondritis. http://www.rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=7417. Accessed February 15, 2012.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2012/03/12 00:00:00 GMT+0

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