What is RP ?
Relapsing Polychondritis is a disease that causes inflammation of cartilage. It can affect many parts of the body but the cartilage that is most frequently involved in this disease is that found in the outer ear, the bridge of the nose and the trachea. The inflammation in these areas is episodic and leads to redness and pain in the affected areas, and can later lead to loss of cartilage.
Research breakthroughs in the genetics of autoimmunity have resulted in the identification of genes that are common to many autoimmune diseases. We are now applying these breakthroughs to the study of RP.
How is Relapsing Polychondritis diagnosed?
The diagnosis of Relapsing Polychondritis is based on a series of clinical criteria, which include episodes of inflammation involving cartilage structures. The diagnosis can be further confirmed by taking a biopsy of the affected cartilage for pathologic examination. No blood test has yet been developed that is diagnostic for RP.
Who gets RP?
RP is an uncommon disease that affects approximately 3-5 individuals per million people. RP affects both men and women. It can affect individuals of all ages, it has been described in childhood and beginning as late as age 80, but most frequently occurs midlife.
What causes RP?
It is not known what causes this disease. But it is thought to be an autoimmune disease. This means that it is caused by the immune system attacking the body, and causing inflammation and tissue destruction.
What happens to patients with RP?
Patients with RP may have some of the problems below:
Inflammation of cartilage:
- The ears and/or the nose may become swollen, red, warm and tender. The throat may become tender or the voice hoarse.
Destruction and thickening of cartilage:
- Collapse or thickening of the outer ears
- Collapse of the bridge of the nose referred to as a saddlenose
- Difficulty breathing due to thickening or the collapse of the trachea
Arthritis:
- Pain and swelling of the joints
- Rib pain (costrochondritis)
Hearing and Balance Problems Eye inflammation:
- Red, painful and swollen eyes due to one of the following uveitis, iritis, scleritis, episceritis, conjunctivitis.
Vasculitis:
- Involvement with large vessels particularly the ascending aorta.
- Rashes or organ specific problems
Renal Involvement:
- Glomerulonephritis
Other
- Many other problems have been described in patients with RP.
- 30% of patients may suffer from another autoimmune disease.
Course of RP?
It was initially thought that all patients with RP would have severe health problems due to the disease. It is now known that there is a great deal of variation in the severity of the disease from person to person. Many individuals may have mild symptoms, which recur infrequently, while others may have persistent problems that become debilitating or life-threatening. At this time it is not known how to predict how the disease will affect any specific individual.
How is RP treated?
Treatment for relapsing polychondritis is approached in a manner similar to other autoimmune diseases. A team approach is very helpful in treating this disease since it can involve many organs. Initial treatment usually includes prednisone and further medical treatment should be done with the supervision of a rheumatologist and may include other medications. Treatment of eye disease should be done in consultation with an opthalmologist, and those individuals with respiratory symptoms may need to be followed by an otolaryngologist or pulmonologist.
Research being done on RP:
Although RP is rare, medical research is being done to try to expand our understanding of the disease. Physicians continue to observe patients and their response to different treatments, and report their findings in the medical literature. Several groups of scientists are examining animal models of the disease, and others are trying to identify new laboratory markers of disease activity.
The ideal approach to understanding an uncommon disease is to gather information from as many patients as possible. Jane Hoyt Buckner, MD, has been studying RP since 1996 and has established a RP registry and sample repository. Her work is designed to examine both the clinical, genetic and immunologic questions important to understanding RP. Presently her work includes establishing a database of information on patients with RP, so that the number individuals affected and the course of disease can be better documented.
Dr. Buckner is also using blood samples donated by patients for her studies in order to expand our understanding of what is causing relapsing polychondritis. These studies include studies of the genes that may contribute to disease, the antibodies that patients make against collagen and the T cells which may be driving the inflammation of cartilage. The goal of this work is to better be able to identify patients with relapsing polychondritis by developing better laboratory tests, to be able to better predict the potential disease activity in patients and to develop improved therapies and potentially a cure for patients with RP.