Relapsing Polychondritis (RPC) is a rare episodic and progressive multisystem inflammatory rheumatic disease that can be life-threatening, debilitating and can be difficult to diagnose. It was first described in 1923 and is characterized be recurrent, potentially severe and frightening episodes of inflammation of cartilaginous tissues. RPC affects cartilage in multiple systems, such as the ears, nose, larynx, trachea, bronchi and joints. In addition, it can affect proteoglycan rich tissues, such as the eyes, aorta, heart and skin. The classic hallmarks of RPC are repeated episodes of chondritis (inflammation of cartilage) involving the ear, nose and trachea. Inflammation at these sites may lead to cartilage destruction and result in deformity of the ears, the nose, and obstruction of the trachea which leads to difficulty breathing. Other problems include arthritis, eye inflammation, hearing and balance disturbances, vasculitis, endocrine system, skin disorders and cranial nerve or brain involvement.
In addition, up to 30% of persons with RPC have another autoimmune disease. The wide array of painful symptoms often pose major diagnostic dilemmas.
No specific blood tests for it are available, RPC must be diagnosed on clinical grounds. The diagnosis of the disease by a physician is based on a set of clinical criteria, determined by the patient's history and physical exam. The clinical features and course of this illness vary considerably and unpredictably from patient to patient. Although criteria exists for the diagnosis of RPC, the early subtle manifestations of this disease often remain unrecognized. As a result, the correct diagnosis is frequently obtained only after classic hallmark features become apparent.
Persons with RPC usually present to primary care physicians, otolaryngologists, rheumatologists and ophthalmologists. The average delay from the time medical attention was sought at symptom onset until diagnosis is 2.9 years. This delay reflects the diagnostic ambiguity that may be encountered. One third of persons with RPC have to see five or more physicians before diagnosis.
RPC has an estimated incidence of 3-5 cases/million. Individuals ranging from 30 months to 90 years of age have been reported with RPC, but most frequently it occurs between the ages of 30 and 60. It knows no ethnic or gender boundaries. RPC is currently not believed to be genetic in nature or familial, however, several families have proven diagnosis' of RPC in siblings or parents and children.
The cause of RPC is still unknown, but there are several lines of evidence that suggest that an autoimmune response directed against cartilage may lead to this disease. The course of this disease and the optimal therapeutic approach to RPC is poorly under-stood. In some persons RPC assumes a fluctuating but progressive course in which repeated bouts of inflammation may lead to permanent destruction of the involved structure. While other patients, may have a more limited pattern of disease.
A standardized therapeutic protocol for RPC has not been established. Treatment is based on current understanding of other autoimmune and rheumatic diseases, and includes use of NSAIDs, prednisone, immunosuppressive, TNF's and Interferon medications. Organ specific treatments may also be necessary.
The course of this disease is more favorable than previously thought. Patients and treating physicians, while being cautious, should feel more optimistic.
