Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Relapsing polychondritis (RP) results in recurrent inflammation of cartilage throughout the body. Cartilage is a type of connective tissue present in multiple sites including the joints, airways, outer ears, tip of the nose, juncture between the ribs and sternum (breastbone), and larynx (voice box). RP most commonly affects the outer ears, nose, and trachea (windpipe), but other structures also may be affected. It is thought that the body’s immune system causes the inflammation at these sites. The symptoms and prognosis are highly variable, but over time, some level of cartilage damage or disability develops. Prompt treatment may lessen adverse effects.

Who

The estimated incidence of RP is 4 in one million people (1:250,000). Symptoms usually begin between 40-59 years of age, but children also develop the disorder. RP is equally prevalent in both sexes and disproportionately affects Caucasians. However, the disease has been reported in all races.

Signs and Symptoms

Signs and symptoms vary from one person to the next. Even within the same person, symptoms vary over time. Most people experience repeated symptom flare-ups interspersed between less active inflammatory periods or times of remission (when symptoms are absent). Some individuals are mildly affected but most have more severe disease that causes increasing levels of damage. The following is a list of signs and symptoms that are associated with BD, but it is important to remember that not all of these apply to every individual. Painful, red inflammation of the outer ears (often the only initial symptom in children). Repeated inflammation eventually may cause the upper part of the outer ear to droop. Arthritis that occurs with flare-ups of the disease Red, swollen, stiff nose. Nosebleed and dripping nose may also occur. Over time, the cartilaginous part of the nose just past the bony bridge may sink in (saddle nose). Hoarseness, cough, shortness of breath, wheezing, throat pain, or repeated illness due to inflammation of the larynx (voice box), trachea (windpipe), or deeper airways (bronchi). Airways are highly affected sites in children. Ear pain, ear infection, and hearing loss Inflammation of the eyes that may cause blurriness or swelling. Fever and weight loss Damage to the aorta (major blood vessel leaving the heart). Inflammation of the blood vessels (vasculitis), the heart, or the heart’s lining (pericarditis) Vertigo (feeling that person or surroundings are spinning), nausea, vomiting, balance problems Effects on the nervous system including headache, uncoordinated movement, confusion, or seizures Rash Kidney problems

Possible Causes

While the exact cause of RP is unknown, it is important to understand that the disorder cannot be spread from one person to another. Certain genes associated with the immune system may be linked to RP. The immune system is the body’s defensive force against invading substances and infections. The immune system helps mediate inflammation, the body’s natural response to injury. One example of inflammation is the red, somewhat swollen area around a scratch. In RP, the immune system has difficulty distinguishing invading substances from innate body components. Consequently, it inappropriately causes inflammation of cartilage and other connective tissue. Specifically, the immune system appears to target type II collagen, a protein that serves as a scaffolding for connective tissue. Because cartilage and collagen provide a strong framework for many body structures, their breakdown in RP distorts the form and function of affected sites. Consequently, RP symptoms include hoarseness or shortness of breath from tracheal (windpipe) cartilage damage and outer ear inflammation or shape distortion from repeated cartilage destruction. Because the immune system attacks one’s own body in relapsing polychondritis, this disorder is classified as an “autoimmune” disease. Individuals with RP also have a 25-35% chance of having an additional autoimmune disease such as Systemic Lupus Erythematosus, Rheumatoid Arthritis, or Vasculitis (inflammation of the blood vessels).

Diagnosis

There is no definitive test for RP, so diagnosis is based on signs and symptoms. One method for diagnosing RP states that an individual must have 3 of the following 6 signs: 1) a specific type of arthritis affecting multiple joints (nonerosive seronegative polyarthritis), 2) impairment of hearing or vestibular sense (which results in nausea, vomiting, or balance problems), 3) eye inflammation, 4) inflammation of the cartilage of the nose, 5) airway cartilage inflammation, or 6) inflammation of both outer ears. A biopsy (removal of a small tissue sample) of affected cartilage is only necessary if a patient’s diagnosis is doubtful. Blood will also be drawn to look for signs of inflammation. Chest X-rays or computed tomography (CT) scans (a special type of photographic-like study) may be done to assess potential airway damage.

Treatment

Appropriate treatment depends on the signs and symptoms that are present. For people whose disease is confined to the nose, ears, and joints, aspirin or ibuprofen (nonsteroidal anti-inflammatory drugs) may be enough to reduce inflammation. However, most people require stronger medications, though these may have side effects when used on a long term basis. Daily prednisone (corticosteroid) pills are most commonly used. Prednisone decreases inflammation, thereby reducing the number of attacks and diminishing associated symptoms. Additional medications that suppress the immune system (dapsone, methotrexate, cyclosporin A) are also sometimes utilized, and they may help limit the amount of steroid that people need to take. While these therapies do not cure RP, they reduce symptoms and also help to prevent cartilage damage. Patients without apparent RP symptoms who have a past history of the disease may still need treatment to prevent subtle progressive damage. Besides medication, surgery is sometimes required. In a small group of patients, RP may damage the valves of the heart and necessitate valve replacement. (The 4 heart valves, which regulate blood flow, are located between the heart chambers and between the heart and outgoing arteries.) Surgery to assist breathing may also be necessary, especially in children as they tend to have serious respiratory problems. Some patients need a tracheostomy in which an incision is made in the neck through the trachea and a tube is inserted down the airway. The tracheostomy is necessary when the airway above the incision site will not stay open on its own. Tracheostomy may be either temporary or permanent. For damage in the trachea itself, a surgeon may place stents (metal devices which hold a tubular structure open) in the trachea.

Prognosis

The prognosis for individuals with RP is highly variable. Some patients are not severely affected. Others experience long periods in which they have no apparent active symptoms. However, most people develop some level of physical alteration or disability. The shape of the nose or ears may change. As mentioned, permanent surgical alteration of the airway may be required to help it stay open. Unfortunately, sudden airway collapse as well as infection and blood vessel inflammation are responsible for fatalities in some RP patients. Previous studies indicated that the 5 year survival rate (primarily in middle aged adults) was 66-74%, but more current information suggests this rate may be much higher at 94%. Very few cases are reported in children, so data on childhood prognosis is scarce. In all patients, the prognosis also depends upon the presence of additional associated autoimmune disorders. While RP may have serious complications, early treatment and strict adherence to physician recommendations may help decrease damage and make the prognosis as positive as possible. Research on RP is currently being carried out to further our understanding of the disease and to develop additional therapies.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Polychondritis Educational Society (PES)
Excellent resource with a clearly explained disorder overview including background information about cartilage. There are links to other resources, including support networks.

Polychondritis Group
A great site run by those affected by RP. It gives information about the disorder, defines medical terms and provides personal stories.

Google Search for Relapsing Polychondritis (RP, RPC)

References and Sources

Harp KI, Raugi GJ, Buckner JH, “Polychondritis,” emedicine, www.emedicine.com/med/topic2000.htm, 2003. Hochberg MC, Chapter 95—“Relapsing Polychondritis,” pp. 1463-1466, Ruddy: Kelley’s Textbook of Rheumatology, 6th ed., home.mdconsult.com/das/book/29889817/view/917/765.html/top, 2001. Knipp S, Bier H, Horneff G, et al, “Relapsing Polychondritis in Childhood—Case Report and Short Review,” Rheumatology International, 19:231-234, www.springerlink.com/app/home/content.asp?wasp=6ea5d385wmcwplecmewp&referrer=contribution&format=2&page=1, 2000. Miller ML, Chapter 169—“Miscellaneous Conditions Associated with Arthritis,” p. 734 Behrman: Nelson Textbook of Pediatrics, 16th ed., home.mdconsult.com/das/book/29889817/view/873/850.html/top, 2000.