Relapsing polychondritis is a rare autoimmune connective tissue disorder characterized by episodes of painful, destructive inflammation of the cartilage and other connective tissues in many organs.
The ears or nose may become inflamed and tender.
Other cartilage in the body can be damaged, leading to various symptoms, such as red or painful eyes, hoarseness, cough, difficulty breathing, rashes, and pain around the breastbone.
Blood and laboratory tests, imaging, and removal of a piece of tissue for examination and testing may be done, and established criteria may be used for diagnosis.
If symptoms or complications are moderate or severe, corticosteroids and immunosuppressants usually help.
This disorder affects men and women equally, usually in middle age. The cause of relapsing polychondritis is unknown, but autoimmune reactions to cartilage are suspected.
Symptoms of Relapsing Polychondritis
Typically, one ear or both ears (but not the ear lobes) become red, swollen, and very painful. At the same time or later, a person can develop joint inflammation (arthritis), which may be mild or severe. Cartilage in any joint may be affected, and the cartilage that connects the ribs to the breastbone may become inflamed. Cartilage in the nose is also a common site of inflammation. The nose may become tender, and cartilage can collapse.
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Other affected sites include the eyes, resulting in inflammation. Rarely, the cornea may develop a hole (perforation), resulting in blindness. The voice box (larynx), windpipe (trachea), or airways of the lungs can be affected, resulting in hoarseness, a nonproductive cough, shortness of breath, and tenderness over the Adam’s apple. Less often, the heart is involved, leading to heart murmurs and occasionally to heart failure. Rarely, the kidneys are affected.
Flare-ups of inflammation and pain last a few weeks, subside, then recur over a period of several years. Eventually, the supporting cartilage can be damaged, resulting in floppy ears, a sloping saddle nose, and a hollow at the lower part of the chest (pectus excavatum). The nerve in the inner ear can be affected, causing eventual problems with balance and hearing, and eventually vision problems can occur.
People who have this disorder may die if the cartilage in their airways collapses, blocking the flow of air, or if their heart and blood vessels are severely damaged.
Diagnosis of Relapsing Polychondritis
Established criteria
Sometimes biopsy
Relapsing polychondritis is diagnosed when a doctor observes at least three of the following symptoms developing over time:
Inflammation of both outer ears
Painful swelling in several joints
Inflammation of the cartilage in the nose
Inflammation of the eye
Cartilage damage in the respiratory tract
Hearing or balance problems
A biopsy of the affected cartilage (most often from the ear) may show characteristic abnormalities but is not required for diagnosis.
Blood tests, such as the erythrocyte sedimentation rate, can detect evidence of inflammation. Blood tests also reveal whether the person has a low number of red blood cells or a high number of white blood cells and whether certain antibodies are present. Although blood test results can help doctors diagnose relapsing polychondritis, they alone cannot confirm a definite diagnosis of relapsing polychondritis because sometimes the abnormalities they detect are present in healthy people or in people who have other disorders.
Doctors also evaluate the airways with spirometry (see Lung volume and flow rate measurements) and computed tomography (CT) of the chest.
Prognosis for Relapsing Polychondritis
Newer therapies have decreased the rate of death, and the survival rate is now 94% after 8 years. People with relapsing polychondritis tend to die earlier than they otherwise would, most often because of damage to the heart, lungs, or blood vessels.
Treatment of Relapsing Polychondritis
Corticosteroids
Sometimes immunosuppressive drugs
Mild relapsing polychondritis of the ear can be treated with nonsteroidal anti-inflammatory drugs
Surgery may be needed to correct collapse or narrowing of the trachea.
People who take corticosteroids are at risk of fractures related to osteoporosis. To prevent osteoporosis, these people are given the drugs used to treat osteoporosis, such as bisphosphonates and .
People who are receiving immunosuppressants are also given drugs to prevent infections such as by the fungus Pneumocystis jirovecii (see prevention of pneumonia in immunocompromised people) and vaccines against common infections such as pneumonia, influenza, and COVID-19.
