INTRODUCTION — Relapsing polychondritis (RPC) is a systemic inflammatory/degenerative disease process that may potentially compromise the structural and functional integrity of cartilage, organs of special sense, and the cardiovascular, renal, and nervous systems (table 1). (See "Clinical manifestations of relapsing polychondritis".)
The diagnostic evaluation of RPC is reviewed here. The pathogenesis, pathology, clinical manifestations, and treatment of RPC are discussed separately. (See "Etiology and pathogenesis of relapsing polychondritis" and "Pathology of relapsing polychondritis" and "Clinical manifestations of relapsing polychondritis" and "Treatment of relapsing polychondritis".)
DIAGNOSIS — The diagnosis of relapsing polychondritis (RPC) is established by the combination of clinical findings, supportive laboratory data, imaging procedures, and biopsy of an involved cartilaginous site (see 'Diagnostic criteria' below). There is no blood test that is specific for RPC.
A spectrum of histologic findings may be present in involved organs. The specific findings depend, in part, on the timing of the biopsy. Histopathologic findings upon biopsy of the auricular cartilage during active disease are pathognomonic, while an auricle with advanced disease and deformity reveals fibrosis. The pathologic features of auricular chondritis and lesions of the aorta, tracheobronchial tree, synovium, kidneys, and eye are presented separately. (See "Pathology of relapsing polychondritis".)
Diagnostic criteria — Either of two sets of empirically derived and related diagnostic criteria may be used to diagnose RPC:
●McAdam criteria – The original (McAdam) criteria required the presence of three or more of the following clinical features [1]:
•Bilateral auricular chondritis
•Nonerosive, seronegative inflammatory polyarthritis
•Nasal chondritis
•Ocular inflammation (conjunctivitis, keratitis, scleritis/episcleritis, uveitis)
•Respiratory tract chondritis (laryngeal and/or tracheal cartilages)
•Cochlear and/or vestibular dysfunction (neurosensory hearing loss, tinnitus, and/or vertigo)
In addition to the clinical criteria, a histologically compatible biopsy (ear, nose, respiratory tract) (picture 1) was considered necessary unless the diagnosis was clinically obvious. (See "Pathology of relapsing polychondritis".)
●Modified (Damiani) criteria – Modifications to the McAdam criteria were subsequently proposed because of the variability of clinical manifestations occurring at a given point in time [2]. Using the modified criteria to establish the diagnosis, all patients were required to have one of the following (algorithm 1):
•At least three of McAdam's diagnostic criteria
•One or more of the clinical findings included in the McAdam criteria, with positive histologic confirmation
•Chondritis at two or more separate anatomic locations with a response to glucocorticoids and/or dapsone
A definite diagnosis may not be possible at the initial presentation because the patient may have only one area of involvement, such as unilateral auricular chondritis or isolated nasal chondritis. The decision to proceed with a biopsy to confirm the diagnosis should be made on a case-by-case basis, since empiric treatment with a short course of prednisone may also be a reasonable option at this stage. (See 'Tissue biopsy' below.)
Diagnostic evaluation — The evaluation to establish the diagnosis of RPC includes a thorough history and examination, with attention to certain features in particular, as well as selected laboratory testing and, in most patients, a biopsy of affected tissue. (See 'History and physical examination' below and 'Laboratory testing' below and 'Tissue biopsy' below and 'Other testing/specialized examinations' below.)
Additional studies are required to establish the extent and severity of disease. (See 'Post-diagnostic evaluation' below.)
History and physical examination — Patients should undergo a thorough medical history and physical examination.
●History – Information that should elicited that is helpful in the diagnosis of relapsing polychondritis includes erythema, tenderness, and pain of the helix of the ear or of the nose; history of ocular inflammation or pain; loss of hearing, ringing in the ears, or dizziness; and hoarseness, wheezing, cough, stridor, or respiratory distress. (See "Clinical manifestations of relapsing polychondritis", section on 'Clinical manifestations'.)
Features of associated conditions that may heighten suspicion of RPC, such as a past medical history of an established autoimmune syndrome or symptoms of an early antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis, are also important in the evaluation. (See "Clinical manifestations of relapsing polychondritis", section on 'Coexistent disease'.)
●Physical examination – The physical examination should be done with particular attention to inspection of the external ears, auditory canals, nasal cartilage, eyes, and joints. Cardiopulmonary examination includes seeking signs of stridor, wheeze, or regurgitant heart murmurs. (See "Clinical manifestations of relapsing polychondritis", section on 'Clinical manifestations'.)
Laboratory testing
●Diagnosis and differential diagnosis – There are no specific laboratory blood tests used to diagnose RPC. However, some testing may be required exclude other conditions that may mimic RPC, such as a complete blood count and differential white blood cell count and a C-reactive protein (CRP) if infection is suspected (eg, in a patient with findings of unilateral chondritis). (See 'Differential diagnosis' below and 'Auricular inflammation' below.)
●Post-diagnostic testing – Additional testing is also required as part of the post-diagnostic evaluation to characterize the severity and extent of organ and system involvement. (See 'Overview of post-diagnostic testing' below.)
●Associated medical conditions – Further testing should be performed to clarify the diagnosis of a suspected associated inflammatory syndrome, such as rheumatoid arthritis or an ANCA-associated vasculitis, largely depending upon the history, examination, and other findings that may be present. (See "Clinical manifestations of relapsing polychondritis", section on 'Coexistent disease' and "Diagnosis and differential diagnosis of rheumatoid arthritis" and "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis" and 'Post-diagnostic evaluation' below.)
Tissue biopsy — Biopsy of a persisting auricular inflammatory lesion should include routine histopathology as well as stains and cultures for fungi and mycobacteria. An auricular biopsy should generally be performed in situations where the patient does not have a multiorgan cartilaginous inflammatory syndrome or fails to respond to prednisone. The pathologic findings in RPC are described in detail separately. (See "Pathology of relapsing polychondritis".)
For example, a patient with ear, nasal cartilage, and tracheal inflammation would not need a confirmatory biopsy. By contrast, a patient with unilateral auricular inflammation not completely responding to an antibiotic and then a prednisone trial should usually undergo a biopsy. In the latter situation, an infiltrating disorder of the skin such as leukemia cutis or cutaneous lymphoma can mimic chondritis. (See 'Auricular inflammation' below.)
Other testing/specialized examinations — The following consultations and testing should be obtained in a patient suspected of RPC, depending upon symptoms and findings:
●Otolaryngology consultation – Evaluation by an otolaryngologist should be performed in all patients suspected of RPC who have airway complaints. Such consultation should also be obtained in all patients once RPC has been diagnosed. (See 'All patients' below.)
●Ophthalmology consultation – Patients with eye symptoms or signs, such as redness, pain, or photophobia, should be referred to ophthalmology for examination and diagnosis [3].
●Pulmonary function tests and chest computed tomography – In patients with cough, dyspnea, stridor, or wheezing pulmonary function tests including an inspiratory loop should be obtained, and computed tomography (CT) of the chest including expiratory images is necessary.
●Synovial fluid analysis – Joint aspiration and synovial fluid analysis should be performed in patients with mono- or oligoarticular inflammatory arthritis to exclude crystalline or infectious etiologies for these clinical findings. Synovial fluid testing should include cell counts, differential white blood cell count, Gram stain, culture, and crystal search.
DIFFERENTIAL DIAGNOSIS — Relapsing polychondritis (RPC) is distinguished from other diseases that can mimic one or more of its features by the coexistence of usually widespread, potentially destructive inflammatory lesions involving cartilaginous structures throughout the body, organs of special sense, and the cardiovascular system. However, the variable, unpredictable expression of clinical features over time may make the diagnosis difficult to establish and to distinguish from other conditions with similar manifestations. The differential diagnosis depends upon the region involved clinically. (See 'Auricular inflammation' below and 'Saddle nose deformity' below and 'Narrowing of the airway' below and 'Ocular inflammation' below and 'Chest wall pain' below.)
Auricular inflammation
●Infection or malignancy – Auricular inflammation simulating that occurring in RPC (picture 2A-B) may be secondary to an acute pyogenic or chronic granulomatous infectious process such as tuberculosis, fungal disease, syphilis, or leprosy. The absence of regional lymphadenopathy should trigger the suspicion of a noninfectious process such as RPC. Leukemia cutis and lymphoma may also present as unilateral auricular chondritis. These conditions can be distinguished by biopsy and culture from RPC.
●Chondrodermatitis nodularis helicis – On occasion, chondrodermatitis helicis nodularis, an inflammatory and degenerative skin lesion of unknown etiology, may cause confusion because of its histologic resemblance to RPC [4-6]. Its more localized, circumscribed distribution and the absence of other features of disease assist in the differentiation. (See "Overview of benign lesions of the skin", section on 'Chondrodermatitis nodularis helicis'.)
●Red ear syndrome – This condition is a very rare disorder characterized by episodes of unilateral or bilateral episodes of auricular erythema and burning lasting for seconds to hours [7,8]. Unlike RPC, the manifestations do not persist for days and the episodes do not respond to antiinflammatory therapies. Patients with this condition frequently report a history of migraine, temporomandibular, or trigeminal pain disorders. Older patients may have symptomatic cervical spondylosis.
Saddle nose deformity — Chondritis with destruction of nasal cartilage and the potential development of a saddle nose deformity, although characteristic of RPC (picture 3), may also be induced by an infectious granulomatous lesion, granulomatosis with polyangiitis (GPA), lymphomatoid granulomatosis, carcinoma, or lymphoma. In addition to the clinical findings associated with these other conditions, a useful differentiating feature is the absence of mucosal inflammation in RPC. (See "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis", section on 'Ear, nose, and throat involvement' and "Epidemiology, clinical manifestations, pathologic features, and diagnosis of diffuse large B cell lymphoma", section on 'Lymphomatoid granulomatosis'.)
Narrowing of the airway — Airway narrowing can result either from an intrinsic lesion or from extension or compression afforded by an extrinsic process. (See "Radiology of the trachea", section on 'Tracheal narrowing'.)
●Epiglottitis – Epiglottitis must always be considered when suspecting an upper airway obstruction. The chief complaint is invariably the sudden onset of a severe sore throat in a previously healthy individual. Death may quickly ensue if the diagnosis is not promptly established and appropriate therapy instituted. The diagnosis of epiglottitis can be made by direct visualization of the epiglottis. (See "Epiglottitis (supraglottitis): Clinical features and diagnosis".)
●Other conditions of the airway – Airway lesions may result from trauma induced by endotracheal intubation, neoplastic disease, GPA, the saber-sheath trachea associated with chronic obstructive pulmonary disease, or the rare tracheobronchopathia osteochondroplastica characterized by osseocartilaginous mucosal nodules which project into the lumen of the larynx, trachea, and bronchi. Biopsy to distinguish GPA from RPC is usually not necessary due to other systemic manifestations that may be present that respectively characterize each condition and the presence of antineutrophil cytoplasmic antibodies (ANCA), which characterize GPA. Rarely, isolated subglottic stenosis may be the sole manifestation of limited GPA, and biopsy confirming the presence of granulomatous inflammation can be helpful. (See "Radiology of the trachea", section on 'Long segment narrowing'.)
●Amyloidosis – The larynx and tracheobronchial tree may be involved by the localized tumor-forming variant of amyloidosis. Individual and coalescent nodules may develop in the supraglottic or subglottic regions of the larynx in this disorder. These differ in their gross and histopathologic appearance from changes in RPC. (See "Overview of amyloidosis", section on 'Pulmonary disease'.)
●Rhinoscleroma – Rhinoscleroma, a chronic granulomatous disease caused by Klebsiella rhinoscleromatis, is endemic to Asia, Africa, and South America. It may progress to a cicatricial stage with dense fibrotic narrowing of the larynx or trachea [9]. Diagnosis is confirmed by histopathology and culture. (See "Radiology of the trachea", section on 'Specific granulomatous and inflammatory diseases'.)
●Pemphigus vulgaris – The larynx may rarely be involved in pemphigus vulgaris, the supraglottic region having an erythematous appearing ulcerated mucosa with a fibrinous exudate. Laryngeal lesions have been reported in 10 percent of patients having cicatricial pemphigoid. Bullae or ulcers mainly occur on supraglottic structures and may be associated with odynophagia. (See "Pathogenesis, clinical manifestations, and diagnosis of pemphigus" and "Clinical features and diagnosis of bullous pemphigoid and mucous membrane pemphigoid".)
●Mediastinal lesions affecting the tracheal wall – Infectious and noninfectious mediastinal lesions (such as tuberculosis, histoplasmosis, and sarcoidosis) may be associated with chronic inflammation, thickening, and stenosis of the tracheal wall. Mediastinal lymphadenopathy has not been described in RPC. (See "Mediastinal granuloma and fibrosing mediastinitis".)
Ocular inflammation — Ocular inflammation, audiovestibular dysfunction, and polyarthritis may be seen in systemic necrotizing forms of vasculitis such as polyarteritis nodosa, GPA, Cogan syndrome, and Behçet syndrome. However, these are not generalized chondropathies like RPC. (See "Clinical manifestations and diagnosis of polyarteritis nodosa in adults" and "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis" and "Cogan syndrome" and "Clinical manifestations and diagnosis of Behçet syndrome".)
Granulomatosis with polyangiitis — GPA may be particularly difficult to distinguish from RPC because of the potential of additional shared expressions of auricular chondritis, saddle nose deformity, laryngotracheal bronchial disease, glomerulonephritis, nervous system involvement, and the presence of ANCA. The correct diagnosis must be established by histologic means and by the recognition of more specific clinical features such as cavitary lung lesions in GPA and diffuse dynamic tracheobronchial collapse and aortic aneurysms in RPC. An overlap is the most plausible explanation when discriminating data do not allow differentiation. (See "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis".)
Systemic inflammatory polyarthritis — Ocular inflammation in conjunction with polyarthritis must be further distinguished from rheumatoid arthritis, the seronegative spondyloarthropathies (ankylosing spondylitis, reactive arthritis, psoriatic arthritis), and sarcoidosis. The individual characteristics of these diseases usually permit the diagnosis to be established. (See "Evaluation of the adult with polyarticular pain" and "Diagnosis and differential diagnosis of rheumatoid arthritis", section on 'Differential diagnosis'.)
Aortitis and aortic aneurysms — The presence of aortitis and aortic aneurysms warrants consideration of developmental connective tissue diseases such as Marfan's and Ehlers-Danlos syndromes, as well as idiopathic medial cystic necrosis, syphilis, and arteriosclerosis. RPC can usually be distinguished from these conditions by the pattern of other clinical features that are present. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes".)
Chest wall pain — Involvement of the costal cartilage, which may occur in RPC and resemble the chest wall involvement sometimes seen in patients with a spondyloarthritis and with the rare condition of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. These can usually be readily distinguished from RPC by their respective clinical characteristics. (See "Overview of the clinical manifestations and classification of spondyloarthritis" and "Neutrophilic dermatoses", section on 'SAPHO syndrome'.)
Imaging studies such as radionuclide bone scans or magnetic resonance imaging (MRI) can help to distinguish inflammatory changes of RPC from noninflammatory entities such as fibromyalgia or anxiety-related chest discomfort if required, but the distinctions can usually be made based upon the medical history and examination, which reveals characteristic features of these conditions and would not show findings typical of RPC. (See "Clinical manifestations and diagnosis of fibromyalgia in adults" and "Major causes of musculoskeletal chest pain in adults" and "Clinical evaluation of musculoskeletal chest pain".)
POST-DIAGNOSTIC EVALUATION
Overview of post-diagnostic testing — Decisions about therapy should not be made until potential subclinical disease involving major visceral sites has been appropriately investigated. Active cardiac, tracheobronchial, and large artery involvement, which generally indicate the need for aggressive therapy, are at times asymptomatic or difficult to detect.
All patients — The following evaluation should be obtained in all patients with relapsing polychondritis (RPC) prior to the institution of therapy (see "Treatment of relapsing polychondritis"):
●Otolaryngology consultation – Examination by an otolaryngologist should be performed in all patients who are diagnosed with RPC.
●Baseline pulmonary function testing – Complete spirometry with both maximal inspiratory and expiratory flow-volume loops should be performed. (See 'Pulmonary function testing' below.)
●Chest radiograph – Posteroanterior and lateral views on plain radiography. (See 'Chest radiography' below.)
●Electrocardiography – Electrocardiography should be obtained to determine if arrhythmias related to myocardial disease are present. (See 'Evaluation for cardiac involvement' below.)
●Renal function and urine – Because of the association of RPC with antineutrophil cytoplasmic antibody (ANCA) vasculitis, creatinine and urinalysis is mandatory in all patients at time of diagnosis.
●Anti-neutrophil cytoplasmic antibody (ANCA) panel – ANCA testing should be done in all patients.
Selected patients — The following evaluation should be obtained in selected patients, depending upon the patient's history and findings:
●Computed tomography of the chest – Patients with nasal chondritis, which is associated with an increased risk of airway involvement; respiratory symptoms; or abnormal flow volume loop spirometry should undergo chest CT with both inspiratory and expiratory views of the major airways to image the lungs, heart, and great vessels of the chest. (See 'Computed tomography' below and 'Evaluation for cardiac involvement' below.)
In addition, findings in other patients may occasionally also suggest the need for a CT of the chest; as an example, a patient with laboratory evidence of a systemic inflammatory response that is greater than expected based upon the clinical manifestations that are evident may have an occult aortitis.
●Bronchoscopy – In patients with abnormal spirometry or CT scanning, a bronchoscopy should be obtained if the finding would assist in diagnosis or management. As an example, in patients with segmental stenosis of the bronchial tree revealed by CT scanning, bronchoscopy should be performed to eliminate alternative diagnoses, such as granulomatosis with polyangiitis affecting the airway. (See 'Bronchoscopy' below.)
●Magnetic resonance imaging of the chest – MRI of the chest is generally not required to establish the diagnosis of RPC. However, MRI of the chest can distinguish areas of inflammation from chronic structural abnormalities; thus, findings on MRI can be useful to determine when more aggressive therapy is required in individuals with airway symptoms. (See 'Magnetic resonance imaging' below.)
●Echocardiography – In patients with CT evidence of aortitis or cardiomegaly, a baseline transthoracic echocardiogram should be obtained. (See 'Evaluation for cardiac involvement' below.)
●Autoantibody testing and related studies – In patients with features in their medical history, physical examination, or other testing (eg, serum creatinine, urinalysis, or ANCA) that suggests a possible systemic rheumatic ("connective tissue") disorder, we obtain serologic and other studies based upon the specific condition suspected from the features that are present.
●Other studies – A variety of other studies have been used in the evaluation of patients with RPC, particularly for the assessment of pulmonary and cardiac involvement, but are not widely available for general clinical use or have not been sufficiently tested to determine how to use them optimally in clinical practice. These include fluorodeoxyglucose positron emission tomography (FDG-PET)/CT and other studies. (See 'Evaluation for pulmonary involvement' below and 'Other imaging techniques' below and 'Evaluation for cardiac involvement' below.)
Additional testing is determined by the clinical presentation of the patient. At least half of patients with RPC have another associated inflammatory disorder. Testing would be based upon the requirements for monitoring the other illness such as rheumatoid arthritis or an ANCA vasculitis. One subset of patients who present an ongoing diagnostic challenge are older patients with a refractory anemia not responding to antiinflammatory therapies. Eventual diagnosis of a myelodysplastic syndrome may require years of follow-up and ongoing reassessment by hematologists.
Evaluation for pulmonary involvement — Functional and anatomical evaluation for upper and lower airway disease is essential in the evaluation and management of RPC. Imaging studies can provide important information noninvasively in the evaluation of the larynx and trachea. Pulmonary function testing and chest radiography should be obtained in all patients (see 'Pulmonary function testing' below and 'Chest radiography' below). Other studies depend upon the findings of the individual patient. (See 'Computed tomography' below and 'Magnetic resonance imaging' below and 'Bronchoscopy' below.)
Pulmonary function testing — Pulmonary function testing may show varying degrees of inspiratory and/or expiratory obstruction; the magnitude varies with the location and character of the pathologic process [10]. A complete spirometric evaluation should include both maximal inspiratory and expiratory flow-volume loops (figure 1). (See "Flow-volume loops".)
Expiratory obstruction correlates well with bronchoscopically defined abnormalities such as collapse and/or narrowing. By contrast, inspiratory obstruction correlates poorly with bronchoscopic findings in the extrathoracic airway. As an example, a normal-appearing larynx associated with decreased maximum inspiratory flow may represent abnormal cricoarytenoid joint motion.
Imaging
Chest radiography — A plain chest film can demonstrate one or more of the following:
●Tracheal narrowing
●Opacities secondary to pneumonia or to atelectasis induced by obstruction
●Increased pulmonary vascularization or pulmonary edema
●A lateral view of the neck may reveal calcification of the tracheal or laryngeal cartilage
Computed tomography — A CT scan of the large airways provides more detail than plain radiography and should be performed at baseline in all patients with nasal chondritis, which is associated with an increased risk of airway involvement; respiratory symptoms; or abnormal flow volume loop spirometry. CT scanning is more useful than conventional tomograms and laryngotracheograms in evaluating laryngotracheal bronchial wall thickening, luminal narrowing, and cartilaginous calcification [11,12]. As a result, it can usually provide an explanation for hoarseness, dysphagia, or respiratory distress in patients with RPC.
Attention to the technique of performing the CT scan may be important. Changes in the caliber of the tracheobronchial tree may be missed if the CT scan is only performed during inspiration (which is the usual method). This was illustrated in a report of 18 patients with RPC who were referred for airway imaging [13]. The majority of patients exhibited expiratory CT abnormalities, but only one-half had abnormalities on routine inspiratory CT scans. Thus, selected slices covering at least the major airways should be obtained in expiration (image 1). A three-dimensional reconstruction of the tracheobronchial images may be useful.
The CT scan is partially limited by its inability to distinguish fibrosis from inflammation.
Magnetic resonance imaging — MRI, with its multiplanar imaging capability and superior soft tissue contrast, is particularly useful for evaluating the trachea and larynx in patients with RPC. It distinguishes fibrosis from inflammation (in contrast to CT) and inflammation from edema, even in the presence of subclinical disease [14,15].
There are two potential limitations to MRI. The length of time required for imaging may create a problem in the patient with respiratory compromise, and there may be low anatomical resolution due to image degradation caused by respiratory motion. The utility of MRI for follow-up in a patient with inflammation documented on bronchoscopy has not been established.
Other imaging techniques — Several other imaging techniques have been used in small series or case reports, including gallium radionuclide imaging, technetium (99mTc) methylene diphosphonate bone scintigraphy, endobronchial ultrasonography, and PET [16-22]. The value of these techniques in routine clinical practice is not established.
FDG-PET/CT may have a future role for staging the extent of disease as it has been demonstrated to detect asymptomatic cartilage involvement [23] and, most importantly, may be more sensitive than CT for detecting early treatment responsive tracheobronchial lesions not seen on standard CT [22,24]. PET/CT scanning using FDG (18F; 18F-FDG) has been shown to be a potentially useful diagnostic technique in case reports and small case series only, but may detect changes in the absence of symptoms or findings in some affected regions (eg, nasal, eustachian tube, and laryngotracheal cartilage, as well as occult aortitis). Further research with this technique is warranted prior to its use in routine clinical practice. Another limitation of PET/CT is that, at times, it may also fail to reveal changes evident by other techniques, including bronchoscopy. However, unlike CT scanning, PET/CT has the advantage of noninvasive detection of active laryngotracheal inflammation [25]. The majority of patients with an abnormal laryngotracheal PET/CT also have abnormalities on standard CT imaging. A potential role for this technique may be to follow the treatment response in the airway, while avoiding the need for bronchoscopy [22].
Bronchoscopy — Bronchoscopy may be a high-risk procedure in individuals whose airways are already substantially compromised. Thus, it should be undertaken only by experts experienced in dealing with potentially collapsible airways.
Evaluation for cardiac involvement — Active inflammation of the heart valves and large arteries may be totally asymptomatic and difficult to detect clinically (see "Clinical manifestations of relapsing polychondritis"). All patients should have baseline electrocardiography and chest plain film radiography (see 'Chest radiography' above); additional studies are indicated in selected patients. The following findings may be seen:
●Chest imaging – A chest radiograph or CT may disclose cardiomegaly or may identify aortic arch widening or prominence of the ascending or descending aorta.
●Electrocardiography – Arrhythmic events secondary to myocarditis or myocardial ischemia can be detected on the electrocardiogram. Holter monitoring may be required to document and define the nature of such events.
●Echocardiography – Doppler echocardiography is the method of choice for the evaluation of cardiac valve status, for measurement of the degree of valvular regurgitation, and for imaging of left ventricular size and function. A baseline transthoracic echocardiogram should be obtained in all patients with CT evidence of aortitis or cardiomegaly. Echocardiography can be deferred in other patients unless their symptoms, examination, or imaging change over time, raising a concern for valvular disease. Early valvular involvement may be asymptomatic, but hemodynamically significant aortic or mitral regurgitation is rarely present at initial diagnosis.
●Other testing for vascular involvement – Enlargement of the ascending aorta can be further assessed by transesophageal echocardiography or by MRI. The latter can also be used to locate aneurysmal dilatation along the course of the aorta. Invasive procedures such as aortography and coronary angiography may be indicated for the evaluation of vasculitis or aneurysms. However, their use may be potentially dangerous because of increased fragility of the vessel wall. Vascular injury can induce a false aneurysm, dissection, or thrombosis.
SUMMARY AND RECOMMENDATIONS
●Relapsing polychondritis (RPC) is a systemic inflammatory/degenerative disease process that may potentially compromise the structural and functional integrity of cartilage, organs of special sense, and the cardiovascular, renal, and nervous systems (table 1). (See "Clinical manifestations of relapsing polychondritis".)
●The diagnosis is based on empirically derived diagnostic criteria, which rely upon the presence of a combination of a sufficient number of key clinical features, such as auricular, nasal, and/or respiratory tract chondritis; seronegative nonerosive inflammatory polyarthritis; ocular inflammation; cochlear and/or vestibular dysfunction (algorithm 1). In some patients, a histologically compatible biopsy or a response to glucocorticoids and/or dapsone are included among the criteria. There is no single reliable diagnostic laboratory test for RPC. (See 'Diagnostic criteria' above.)
●The initial diagnostic evaluation for RPC should include a thorough medical history and physical examination, with particular attention to characteristic clinical features; other testing depends upon the symptoms and findings, and may include otolaryngology and ophthalmology evaluation, pulmonary function testing, CT of the chest, and synovial fluid analysis. (See 'Diagnostic evaluation' above.)
●Additional testing may be required as part of the diagnostic evaluation to exclude other conditions that may mimic RPC, depending upon the symptoms and findings that are present clinically. Further testing is also required as part of the post-diagnostic evaluation to characterize the severity and extent of organ and system involvement. Studies should also be performed to clarify the diagnosis of a suspected associated inflammatory syndrome, such as rheumatoid arthritis or an antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis, largely depending upon the history, examination, and other findings that may be present. (See 'Laboratory testing' above and 'Overview of post-diagnostic testing' above.)
●Functional and anatomical evaluation for upper and lower airway disease is essential in evaluation and management of the disease. We obtain a complete spirometric evaluation with inspiratory and expiratory flow-volume loops and a chest radiograph. A CT scan, with both inspiratory and expiratory views of the large airways, should be performed at baseline in all patients with nasal chondritis, which is associated with an increased risk of airway involvement; respiratory symptoms; or abnormal flow volume loop spirometry. (See 'Evaluation for pulmonary involvement' above.)
●A baseline transthoracic echocardiogram should be obtained in all patients with CT evidence of aortitis or cardiomegaly. Echocardiography can be deferred in other patients unless their symptoms, examination, or imaging change over time, raising a concern for valvular disease. (See 'Evaluation for cardiac involvement' above.)
ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges Clement J Michet, MD, who contributed to an earlier version of this topic review.
