Relapsing polychondritis is an episodic, inflammatory, and destructive disorder involving primarily cartilage of the ear and nose but also potentially affecting the eyes, tracheobronchial tree, heart valves, kidneys, joints, skin, and blood vessels. Diagnosis is by a combination of clinical, laboratory, imaging, and sometimes biopsy findings. Treatment usually requires prednisone and other immunosuppressants.
Relapsing polychondritis affects men and women equally; onset typically is in middle age. An association with RA, systemic vasculitis, SLE, and other connective tissue disorders suggests an autoimmune etiology.
Symptoms and Signs
Acute pain, erythema, and swelling most commonly affect the pinna cartilage. Nasal cartilage inflammation is the next most common manifestation, followed by arthritis that varies from arthralgias to symmetric or asymmetric nondeforming arthritis involving large and small joints, with a predilection for the costochondral joints and knees. The next most common manifestations, in decreasing order of frequency, are inflammation of the eye (eg, conjunctivitis, scleritis, iritis, keratitis, chorioretinitis); cartilaginous tissue of the larynx, trachea, or bronchi (causing hoarseness, cough, and tenderness over the laryngeal cartilage); internal ear; cardiovascular system (eg, aortic regurgitation, mitral regurgitation, pericarditis, myocarditis, aortic aneurysms, aortitis); kidney; and skin. Bouts of acute inflammation heal over weeks to months, with recurrences over several years.
Advanced disease can lead to destruction of supporting cartilage, causing floppy ears, saddle nose, pectus excavatum, and visual, auditory, and vestibular abnormalities. Tracheal narrowing can lead to dyspnea, pneumonia, or even tracheal collapse. Coexisting systemic vasculitis (leukocytoclastic vasculitis or polyarteritis nodosa), myelodysplastic syndrome, or cancer is possible.
Diagnosis is established if the patient develops at least 3 of the following:
Biopsy of involved cartilage, most often the pinna, is helpful if clinical diagnosis is not clear-cut.
Laboratory tests are done. They are not specific but may help exclude other disorders. Synovial fluid analysis reveals mild inflammatory changes that are nonspecific but help rule out an infectious process. Blood tests may show normocytic-normochromic anemia, leukocytosis, elevated ESR or γ-globulin levels, and occasionally positive rheumatoid factor, antinuclear antibodies (ANA), or, in up to 25% of patients, antineutrophil cytoplasmic antibodies (ANCA). Abnormal renal function may indicate an associated glomerulonephritis. A positive c-ANCA test (ANCA that are reactive mainly to proteinase-3) suggests granulomatosis with polyangiitis (previously Wegener granulomatosis), which can cause similar findings (see Granulomatosis with Polyangiitis (GPA)).
The upper and lower airways should be evaluated, including complete spirometric testing and chest CT, when the diagnosis is made.
Mortality rates have decreased with newer therapies. Survival is now 94% after 8 yr, with death typically resulting from collapse of laryngeal and tracheal structures or from cardiovascular complications such as large-vessel aneurysm, cardiac valvular insufficiency, or systemic vasculitis.
Mild recurrent ear disease may respond to NSAIDs in anti-inflammatory doses, or dapsone (50 to 100 mg po once/day). However, most patients are treated with prednisone 30 to 60 mg po once/day, with tapering of the dose as soon as there is a clinical response. Some patients require chronic use. In such patients, methotrexate 7.5 to 20 mg po once/wk can reduce the requirement for corticosteroids. Very severe cases may require other immunosuppressants, such as cyclosporine, cyclophosphamide, anti-TNF drugs (eg, infliximab, etanercept), or azathioprine (see Immunomodulatory, cytotoxic, and immunosuppressive drugs). None of these therapies has been tested in controlled trials or has been shown to decrease mortality. If tracheal narrowing causes stridor, a tracheostomy or stent may be needed.
More extensive tracheobronchial collapse may require tracheal reconstruction. Eye disease may sometimes be recalcitrant to treatment, especially when involving the sclera, and has a poor prognosis. All patients should be closely monitored for atherosclerosis given the risk of premature atherosclerosis in systemic vasculitides. Patients on long-term corticosteroid therapy should receive osteoporosis prophylaxis. Prophylaxis for opportunistic infections, such as Pneumocystis jirovecii, should be added if combination immunosuppressive therapy is used.
Endotracheal intubation can be technically difficult because of tracheal involvement and narrowing; also, intratracheal manipulation can lead to life-threatening postanesthetic deterioration by causing further glottal or subglottal inflammation. Thus, endotracheal intubation should be avoided whenever possible (eg, instead using local and regional anesthesia). When endotracheal intubation is unavoidable, preparations should be made for emergency cricothyrotomy.
Last full review/revision June 2013 by Rula A. Hajj-ali, MD
Content last modified October 2013