Relapsing Polychondritis

Peter D. Kent; Clement J. Michet, Jr; Harvinder S. Luthra


Curr Opin Rheumatol. 2004;16(1) 

In This Article

Clinical Features and Organ-Specific Special Investigations

Diagnostic criteria that distill the most common clinical features of relapsing polychondritis were put forth in 1976 by McAdam et al.,[1] but have since been modified. Currently, the diagnosis is usually made on the basis of chondritis in two of three sites (auricular, nasal, laryngotracheal) or one of those sites and two other features, including ocular inflammation, audiovestibular damage, or seronegative inflammatory arthritis.[2,3] A biopsy is unnecessary in most cases.

The reader is referred to several papers that review the literature on relapsing polychondritis.[4,5*] The frequency of clinical manifestations in relapsing polychondritis is shown in Table 1 , which combines data from three large studies involving 337 patients.[1,3,4] Auricular chondritis is the most frequent and unique presenting sign, causing subacute onset of pain, redness, and swelling of the ear, sparing the lobule. Attacks often occur in a relapsing-remitting pattern and may leave a floppy pinna or cauliflower deformity. Conductive hearing loss can result from stenosis of the external auditory canal, Eustachian tube chondritis, or serous otitis media. Presumed vasculitis of the internal auditory artery may result in acute sensorineural hearing loss with or without symptoms of vestibular dysfunction.[6]

Arthritis is the second most common presenting symptom of relapsing polychondritis and it eventually affects more than 70% of patients. The arthritis of pure relapsing polychondritis is intermittent, migratory, asymmetric, seronegative, and usually nonerosive.[7] Hand and foot radiographs typically show joint space reduction and/or osteopenia.[8] Relapsing polychondritis is often described in the presence of other arthropathy-inducing diseases such as connective tissue diseases, rheumatoid arthritis, and the spondylarthropathies.[5*]

Although only approximately 18% of patients present with some evidence of ocular inflammation, this eventually develops in nearly 60%. Episcleritis and scleritis are the most common manifestations, followed by keratoconjunctivitis sicca, iritis, retinopathy, keratitis, optic neuritis, and corneal melt.[9] Inflammation external to the globe can result in orbital pseudotumor, extraocular muscle palsy, and lid edema.

Nasal chondritis is painful, affects the distal part of the nasal septum, and through recurrent episodes leads to a saddle nose deformity. Chondritis of the laryngotracheal cartilages occurs in more than half of patients, with a female preponderance, and may present with anterior neck pain, hoarseness, cough, inspiratory obstruction with choking, shortness of breath, or wheezing. Anatomically, obstruction results from edema, vocal cord palsy,[10] fixed subglottic or bronchial stenoses, and/or dynamic airway collapse.

Pulmonary function tests, including inspiratory and expiratory flow volume curves, should be performed in all patients with relapsing polychondritis to detect occult airway disease.[11,12] In the presence of respiratory symptoms or pulmonary function test abnormalities, CT of the chest should be performed. Findings may include tracheal and bronchial stenoses, thickening and calcifications of the airway walls, obstructive bronchiectasis, and dynamic tracheal/bronchial collapse.[13,14] Bronchoscopy is not routinely used because it poses a risk of respiratory decompensation to the patient, but it may help distinguish postinflammatory from active inflammatory lesions. Costochondritis and inflammation of the manubriosternal joint may also compromise respiration.

Urinalysis should be obtained with follow-up visits because approximately 22% of patients with relapsing polychondritis develop some type of renal lesion documented by microhematuria, proteinuria, or abnormal kidney biopsy.[15] Renal involvement is associated with a higher incidence of extrarenal vasculitis, arthritis, and a worse survival. Renal pathology has included mesangial expansion, IgA nephropathy,[16] tubulointerstitial nephritis, and segmental necrotizing crescentic glomerulonephritis.[15] Some renal lesions may be associated with coexisting diseases such as systemic lupus erythematosus.

A recent study of 200 cases of relapsing polychondritis found that 73 patients (37%) had at least one associated disease that could cause a skin condition.[17] Of the remaining 127 patients with pure relapsing polychondritis, 45 (35%) had dermatologic involvement during the course of follow-up. Oral aphthous ulcers were the most frequent manifestation, followed by nodules on the limbs with an erythema nodosum appearance (15%), purpura, sterile pustules, superficial phlebitis, and livedo reticularis. Limb ulcerations, urticarial papules, bluish red papules, distal necrosis, and erythema elevatum diutinum were each seen in less then 5% of patients. Although seven patients had both oral and genital aphthae in the absence of other diseases, none had uveitis and they were not classified under the MAGIC syndrome (mouth and genital ulcers with inflamed cartilage).[18] Leukocytoclastic vasculitis was the most frequent biopsy diagnosis, with other causes including septal panniculitis, neutrophilic dermatoses, and thrombotic occlusion of dermal vessels. Of patients with a myelodysplastic syndrome and relapsing polychondritis, 91% had dermatologic involvement, and the mean age at first chondritis was 63 years compared with 41 years in patients without an associated disease. The coexistence of skin manifestations and relapsing polychondritis in the elderly warrants vigilance for the development of a myelodysplastic syndrome.

The spectrum of cardiovascular disease manifestations of relapsing polychondritis includes aortitis,[19] thoracic and abdominal aortic aneurysms,[20] Takayasu-like aortic arch syndrome,[21] aortic and/or mitral regurgitation,[22] impairment of the conduction system,[23] pericarditis,[24] medium- and large-vessel (including coronary) vasculitis,[25] thrombophlebitis,[26] and arterial thrombosis.[27*] Some, but not all thrombotic complications have been linked to antiphospholipid syndrome.[28] Aortic regurgitation is the most prevalent cardiovascular complication, occurring in approximately 4 to 10% of patients.[19,24] These complications tend to occur after several years of smoldering and often occult disease, and they may develop in the presence of ongoing immunosuppressive therapy.[27*] In the patient with a murmur or unexplained dyspnea, electrocardiography and echocardiography should be performed. CT, magnetic resonance angiography,[29] ultrasound, and conventional angiography can be used to evaluate for aneurysms, vasculitis, or thromboses.

Central and peripheral nervous system involvement in relapsing polychondritis occurs in approximately 3% of patients.[30] The cranial nerves are most frequently involved,[31] but seizures, cerebral dysfunction, confusion,[32] headaches, cerebral aneurysm,[33] and rhomboencephalitis[34] have been described. The pathogenesis of these symptoms is presumed to be vasculitic, but definite central nervous system vasculitis is rarely documented.[35] MRI of the brain may show multifocal areas of enhancement consistent with cerebral vasculitis.[36] Cerebrospinal fluid may be normal, may show a lymphocytic pleocytosis, and may mimic bacterial infection.[34,37,38]


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