Relapsing polychondritis

Relapsing polychondritis (RP) is a very rare autoimmune disease characterized by inflammation and deterioration of cartilage. The disease is also known as chronic atrophic polychondritis, Meyenburg-Altherr-Uehlinger syndrome, von Meyenburg’s disease, generalized chondromalacia, and systemic chondromalacia. Relapsing polychondritis belongs to the class of rheumatic diseases.

Epidemiology
The incidence of polychondritis is estimated to be 3 – 3,5 in 1.000.000 people. The disease occurs at any age, but appears mostly around the age of 40-60. There is no evidence of differences between males of females. The disease often occurs together with other diseases, such as systemic lupus erythematosus (SLE), vasculitis or rheumatoid arthritis (RA).

Cause
The cause of the disease is unknown. It is thought that auto-antibodies attack glycosaminoglycans (GAGs), an important component of connective tissues such as cartilage.

Symptoms
Cartilage in all parts of the body can be affected, but in many cases the disease will affect cartilage in specific places. Body parts which contain cartilage, and thereby can be affected by RP, are the ears (83% of the patients), eyes (20-60%), nose (61%), throat (12%) and joints (72%). Commonly, degradation of the ears is the distinguishing factor in RP. Only necrotising otitis externa and pseudomonas aeruginosa can induce similar symptoms. In some patients, polychondritis can induce tracheomalacia type 3. Tracheolmalacia is a condition characterized by flaccidity of the tracheal support cartilage, which can lead to tracheal collapses under some conditions.

Organ involvement Possible manifestations
Ear External inflammation, loss of hearing, tinnitus, vertigo
Eye Episcleritis, scleritis, ulcerative keratitits, uveitis, proptosis
Nose Crusting, rhinorrhea, epistaxis, saddle nose
Airways Hoarseness, aphonia, wheezing, inspiratory stridor, non-productive cough, dyspnea
Joints Parasternal joints, peripheral joints
Heart Aortic and mitral valvular disease
Skin Aphthous ulcers, purpura, papules, nodules or ulcerations

Diagnosis
Relapsing polychondritis is diagnosed based on symptoms. Biopsy of the tissue involved is not always required, but can be useful to identify inflammation. Relapsing polychondritis can be diagnosed if:

  • Symptoms are present in two of the three most important areas (ears, nose and throat);
  • Or symptoms are present in one of the three most important areas, and also two other conditions such as inflammation of the eye, hearing damage or arthritis are present.

There are no specific laboratory (blood, urine) tests or antibodies to diagnose relapsing polychondritis. Measurement of inflammatory parameters can however be helpful.

Due to the rareness of the disease, the time between the first medical contact and the diagnosis of polychondritis is on average 2,9 years. More than 50% of the patients have to wait longer then a year before the diagnosis is made, and a third of the patients visit more than four physicians before the diagnosis is made.

Treatment
Treatment of polychondritis often consists of suppressing the immune system with corticosteroids such as prednisone (also known as prenisolone). However, prednisone does have a number of side effects. To reduce the possibility of the side effects of prednisone non-steroidal anti-inflammatory drugs (NSAIDs) are also used. A drug that has shown promise is methotrexate.

Prognosis
The most common causes of death in patients with relapsing polychondritis are diseases of the airways, infections due to immunosuppressive medication and cardiovascular complications. Due to better monitoring and treatment possibilities, the survival rates of RP patients have increased enormously. Where a study in 1986 showed a 10-year survival of 55%, a study in 1998 showed a 10-year survival of 98%.