Relapsing polychondritis

Evidence Levels: A Double-blind study B Clinical trial ≥ 20 subjects C Clinical trial < 20 subjects D Series ≥ 5 subjects E Anecdotal case reports

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Relapsing polychondritis is an autoimmune rheumatic disorder characterized by cartilage inflammation. Characteristic features include nasal bridge, auricular and ocular inflammation, and major airway disease. It is rare with an incidence of 0.71/million/year, with an estimated increased mortality rate of 2–3 times that of the general population, and there is often a delay in establishing a diagnosis. There is an associated autoimmune condition in 8–20% of patients with relapsing polychondritis.

The diagnosis is established by the presence of chondritis in two of three characteristic anatomic sites: auricular, nasal, laryngotracheal, or one of these sites and two other features, including ocular inflammation, audiovestibular damage, or seronegative inflammatory arthritis. In most patients, histologic confirmation is not necessary for diagnosis.

Auricular chondritis manifests as ear pain, redness, and swelling with sparing of the non-cartilaginous lobule. After repeated relapses, the pinnae may be floppy and distorted or have a cauliflower-like appearance. The ear may become rigid after extensive calcification. Hearing loss, either sensory or conductive, can occur in up to 50% of cases.

Recurrent nasal chondritis results in a saddle-nose deformity.

Skin manifestations include oral ulceration, sometimes with genital ulceration, nodules, purpura, papules, sterile pustules, superficial phlebitis, livedo reticularis, skin ulcers, and distal necrosis.

Laryngotracheal chondritis presents with hoarseness, tracheal ring tenderness, cough, breathlessness, and stridor. All patients with suspected pulmonary disease should undergo computed tomography (CT) imaging, including end-inspiratory and dynamic expiratory volumetric imaging. End-inspiratory scanning may reveal tracheal and bronchial stenosis, wall thickening, and calcification. Expiratory scans may demonstrate tracheobronchial malacia with airway collapse and air trapping. Airway manifestations are ultimately present in over 50% of patients and are the leading cause of death. Cardiovascular complications eventually occur in half of all patients and are the second most frequent cause, of mortality. Aortic involvement, leading to aneurysmal disease, is the most common cardiac manifestation. Cardiac manifestations can also include aortic regurgitation, aortic aneurysm, atrioventricular block, mitral regurgitation, and acute pericarditis, making periodic cardiac examination mandatory.

Central and peripheral nerve involvement is rare. Cranial nerve lesions are the most common, but other complications include seizures, cerebral dysfunction, confusion, headaches, cerebral aneurysm, and rhombencephalitis.

All patients should be monitored for the development of renal disease with routine urine dip testing for blood and protein.

Disease activity is assessed clinically by standard methods. There is an objective scoring system, the Relapsing Polychondritis Disease Activity Index (RPDAI), that provides objective disease assessment for use in clinical studies. An updated new scoring system to assess damage, relapsing polychondritis disease activity (RPDAM), based on expert opinions has been developed but this has yet to be validated.