Polychondritis, also called relapsing polychondritis, is a rare disease in which cartilage in many areas of the body becomes inflamed. The disease most commonly affects the ears, nose and the airways of the lungs. The cause is not known, and it occurs most often in people in their 50s or 60s. One theory is that polychondritis might be an autoimmune disease, in which the immune system attacks the body rather than foreign invaders such as viruses. In polychondritis, it's possible that a triggering event, perhaps an infection, sets off a reaction by the immune system, which unleashes an attack on the body's cartilage. Some people may have a genetic makeup that makes them more prone to this. The disease does not seem to run in families. It sometimes appears in people who have other disease, such as rheumatoid arthritis, vasculitis (inflammation of blood vessels) and systemic lupus erythematosus (SLE or lupus).

Polychondritis is a systemic (body-wide) illness. Common symptoms include:

• Fatigue or malaise
• Fever
• Red, swollen, painful (inflamed) ears, hearing loss, dizziness
• Ears that are "floppy," that is, they are softer than normal, limp or droopy
• Inflammation over the bridge of the nose, nasal congestion
• Arthritis
• Shortness of breath, cough, stridor (high-pitched sound during breathing)
• More rarely: eye inflammation, leaky heart valves, kidney disease, neurological problems, rash

The diagnosis may be delayed, since early symptoms can be similar to symptoms of other conditions that are much more common than polychondritis. A biopsy of an inflamed area is required to confirm the diagnosis. In a biopsy, a small piece of tissue is removed and examined under a microscope. The biopsy also is helpful to rule out other causes of symptoms such as infection, especially tuberculosis, syphilis, leprosy and fungal disease. Sometimes, the biopsy is not conclusive, or the doctor is certain enough of the diagnosis that a biopsy does not have to be done. No single blood test will give a definite diagnosis, including tests for antibodies to cartilage. Imaging studies, including a computed tomography (CT) scan of the lungs and other tests, especially pulmonary-function tests, may be performed to help determine the extent of disease.

Criteria for diagnosis have been developed by experts on the disease to standardize the definition of the disease. Patients may be diagnosed with polychondritis when compatible symptoms are present (see below) and biopsy supports the diagnosis. However, if a biopsy is not obtained, the diagnosis is still likely when a person has at least three of the following:

• Inflammation of the cartilage in both ears (excluding the soft lower earlobe)
• Arthritis of multiple joints, although X-rays usually do not show joint damage
• Inflammation of the cartilage over the bridge of the nose
• Eye inflammation
• Inflammation of the cartilage in the trachea or throat
• A certain type of hearing loss (called neurosensory hearing loss), ringing in the ears (tinnitus) and/or a sensation of spinning (vertigo)

The diagnosis of polychondritis can also be established when a person has unexplained cartilage inflammation in 2 or more parts of the body that improves with corticosteroid and/or dapsone therapy.

Polychondritis is a chronic (long-lasting) disease, although medications frequently can reduce the severity of symptoms. Sometimes, the disease goes into remission, meaning it goes away temporarily, whether or not the person is treated.

Because the cause is unknown, there is no way to prevent polychondritis. Complications can be prevented with appropriate medical attention. For example, if there is severe inflammation of the windpipe (trachea), a tracheal stent, a small tube that keeps the airway open, can be inserted until medications are able to control the disease.

Because the disease is so rare, studies to determine the single best treatment are difficult to do. As a result, there is no clear ideal therapy for this disease. Treatment depends on what parts of the body are affected and how severely. For more minor disease, such as arthritis or rash, nonsteroidal anti-inflammatory drugs (NSAIDs), analgesics, dapsone or corticosteroids may be appropriate. For more severe disease immunosuppressive medications are prescribed, often in combination with NSAIDs and/or steroids. Immunosuppressive medications include methotrexate (Folex, Rheumatrex), azathioprine (Imuran), cyclophosphamide (Cytoxan, Neosar) and cyclosporine (Neoral, Sandimmune). Recently, reports have been published detailing improvement in severe polychondritis after other immunosuppressive medications, including infliximab (Remicade), etanercept (Enbrel), leflunomide (Arava), mycophenolate mofetil (Cellcept) and tocilizumab (Actemra). However, the role of these agents in treating polychondritis remains uncertain. Reports of successful treatment with stem cell transplantation have also been recently published.

Tracheal surgery or stenting and treatment of any accompanying infection also are options to be considered in some cases. Surgery to repair an injured part of the trachea is a major operation. Increasingly, however, doctors use a procedure called bronchoscopy, in which they use a flexible tube to look down the throat and into the trachea, and insert a small plastic tube called a stent to keep the airway open. When the person also has an infection, such as pneumonia or bronchitis, antibiotic therapy can be lifesaving.

If you have the symptoms of polychondritis, especially if you have difficulty breathing, contact your health care professional.

The outlook for people with polychondritis is highly variable. People with active disease involving the airways may die prematurely. However, milder disease or disease that responds rapidly to treatment may have an excellent prognosis. Most recent studies suggest that although many patients have some impairment such as hearing loss, visual problems or breathing problems, the disease in many patients is chronic but tolerable.

National Organization for Rare Disorders (NORD)
55 Kenosia Ave.
P.O. Box 1968
Danbury, CT 06813-1968
Phone: 203-744-0100
Toll-Free: 1-800-999-6673
TTY: 203-797-9590
Fax: 203-798-2291
http://www.rarediseases.org/

American College of Rheumatology
1800 Century Place
Suite 250
Atlanta, GA 30345-4300
Phone: 404-633-3777
Fax: 404-633-1870
http://www.rheumatology.org/