Table 28–1 lists the major clinical manifestations of RP.
Unilateral or bilateral auricular chondritis is often the first disease symptom (Figure 28-1). The onset of auricular inflammation is usually quite abrupt and not subtle. The inflammation may be confused with cellulitis of the ear or even sunburn in more minor cases. A major clue to the diagnosis of RP is confinement of the inflammation to the auricular part of the ear, with sparing of the earlobe. The cartilaginous portions of the ears are erythematous and tender to touch. Swelling of the external ear canal may cause conductive hearing loss. RP may also be associated with sensorineural hearing loss, the mechanism of which remains obscure (vasculitis is often implicated, without proof).
Auricular chondritis in a patient with relapsing polychondritis. Note the sparing of the earlobe (a noncartilaginous portion of the ear).
Inflammation of the nasal cartilage leads to tenderness of the nasal bridge and often to epistaxis. In severe cases, “saddle-nose” deformities develop through collapse of the nasal bridge (see Figure 32-1). This is usually preceded by the development of a nasal septal perforation.
Subglottic stenosis results from tracheal inflammation and scarring inferior to the vocal cords. Early subglottic involvement often has minimal symptoms and may manifest itself as only subtle changes in voice. Thickening of the tracheal wall may be evident on computed tomography (CT) scanning. With time, however, substantial airway scarring may occur, leading to potentially life-threatening tracheal narrowing. In addition to the subglottic region, other parts of the tracheal wall may be softened by cartilaginous inflammation, leading to a tendency of the airway to collapse. Tracheal inflammation may be associated with tenderness to palpation of the anterior cervical trachea, the thyroid cartilage, and larynx.
Cartilaginous inflammation may extend to the lower respiratory tract, with bronchial involvement. This manifestation, unlike the tracheal disease, may have a lengthy subclinical period but is usually detectable by investigations such as pulmonary function testing or CT scanning. RP may mimic bronchial asthma. Lower airway disease and its associated mucociliary dysfunction may heighten patients’ susceptibility to infections.
Nearly any part of the eye may be involved in RP. Scleritis causes photophobia and painful, often raised, scleral erythema. If unchecked, necrotizing scleritis may lead to scleral thinning (Plate 45), scleromalacia perforans, and visual loss. Peripheral keratitis may cause ulcerations on the margin of the cornea and lead to the syndrome of “corneal melt.” Episcleritis and conjunctivitis are very common in RP. Extraocular involvement may include periorbital edema, chemosis, and proptosis.
Cartilaginous inflammation within the heart valve rings may lead to valvular dysfunction. The usual lesions are aortic and mitral regurgitation; aortic valve disease is more common. The proximity of the conduction system to some areas of valve ring inflammation may lead to cardiac conduction abnormalities. Pericarditis and rare cases of coronary arteritis have also been described in RP.
Articular lesions are often the first nonspecific manifestation of RP. The pattern of joint involvement at presentation is typically an intermittent, migratory oligoarthritis, but symmetric polyarticular presentations are also seen. In general, the arthritis associated with RP is nondestructive, unless there is underlying rheumatoid arthritis. Joint symptoms tend to correlate well with activity of disease at other sites.
Patients with RP may demonstrate a panoply of cutaneous lesions, none of which is specific for the disorder. Cutaneous findings are particularly common in cases of RP that are associated with myelodysplasia but occur frequently in other cases as well. Among patients with primary RP, the most common skin findings are aphthous ulcers, nodules (erythema nodosum–like lesions), purpura, papules, and sterile pustules. The cutaneous lesions of RP may resemble those of Behçet syndrome. An overlap condition known as the MAGIC syndrome, comprising mouth and genital ulcers with inflamed cartilage, has been described.
Renal lesions in RP range from pauci-immune glomerulonephritis to mild mesangial expansion and cellular proliferation. Distinguishing RP from granulomatosis with polyangiitis is difficult in the setting of pauci-immune glomerulonephritis.
There are no specific laboratory findings in RP. Mild normochromic, normocytic anemias, and mild degrees of thrombocytosis may be observed. Major cytopenias should trigger suspicion of myelodysplasia. Mild to moderate elevations of acute phase reactants are expected. Antinuclear antibodies and rheumatoid factor are usually negative, and complement levels are normal. In the setting of antineutrophil cytoplasmic antibody (ANCA) positivity, granulomatosis with polyangiitis must be suspected, particularly if the antibody specificity is to either proteinase-3 or myeloperoxidase.
CT scans are useful in the evaluation of airway disease. CT findings in RP include edema, wall thickening, granulation tissue, and fibrosis. Thin-cut CT scans of the trachea are sensitive means of evaluating subglottic stenosis. In some cases of subglotting narrowing, however, direct visualization with fiberoptic laryngoscopy is required to make the diagnosis.
Given the proper constellation of clinical symptoms and signs, tissue biopsy is rarely required to establish the diagnosis of RP. Biopsy may be important, however, in the exclusion of RP mimickers. In contrast to granulomatosis with polyangiitis, RP is not associated with granulomatous inflammation. Biopsy of the trachea or larynx should be performed only with great caution because acute airway narrowing may result from additional damage to already compromised tissues.
Full sets of pulmonary function tests, including inspiratory and expiratory flow-volume loops, are useful in RP. Patterns consistent with either extrathoracic or intrathoracic obstruction (or both) may occur in RP. Pulmonary function tests (flow-volume loops) provide a useful noninvasive means of quantifying and following the degree of extrathoracic airway obstruction.