Relapsing Polychondritis (RP) is a rare autoimmune 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 many other areas of the body may be affected by RP, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected.
Relapsing Polychondritis (RP) is characterized by recurrent inflammation of cartilage 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:
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 eyeballs) 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.
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.
The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. Autoimmune disease is an inflammatory condition where the body attacks its own healthy cells, believing them to be foreign. It is thought that RP occurs when the body’s immune system mistakenly attacks its own cartilage and other tissues.
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.
There are no tests available that are specific for Relapsing Polychondritis (RP). A clinical diagnosis is 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:
- 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).
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.