Relapsing polychondritis

The following list includes the most common signs and symptoms in people with relapsing polychondritis (RP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition

The features of the condition and the severity of symptoms vary significantly from person to person, but may include:^[1][4][5]

• Pain and swelling of the ear
• Damage to the outer part of the ear
• Swelling of the inner ear
• Dizziness, hearing loss, and/or nausea
• Joint pain
• Swelling of the voice box (larynx)
• Narrowing and blockage of the trachea (tracheal stenosis)
• Coughing, wheezing, or hoarseness
• Swelling of the outer parts of the eye (episcleritis, uveitis and/or scleritis).
• Nasal cartilage inflammation and damage

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.^[4] Symptoms usually begin in adulthood between the ages of 20 and 60, but RP has been diagnosed in children as well. 

In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological diseases (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.

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. The most serious symptoms involve the airways and heart.

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.^[2] 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.^[3]

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:^[6]

• 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.^[6]

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.^[7][8]

People who develop severe heart or respiratory complications may require surgery.^[9]

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

It has been estimated that between 3-4 people per one million develop relapsing polychondritis every year. Females are more likely to develop RP than males. The exact number of people with this condition is unknown.^[4][5]