ﺑﺎﺯﮔﺸﺖ ﺑﻪ ﺻﻔﺤﻪ ﻗﺒﻠﯽ
خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
medimedia.ir

Diagnostic evaluation of relapsing polychondritis

Diagnostic evaluation of relapsing polychondritis
Literature review current through: Jan 2024.
This topic last updated: Nov 03, 2023.

INTRODUCTION — Relapsing polychondritis (RPC) is a systemic inflammatory disease that can 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 recognition of a specific pattern of organ involvement, based on clinical findings combined with laboratory data and imaging (see 'Diagnostic criteria' below). There is no blood test that is specific for RPC.

Diagnostic criteria — Two sets of criteria are available to make the diagnosis of RPC; however, these criteria were based on small samples and have not been validated in larger cohorts.

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)

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 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

The diagnosis of RPC is challenging because of the relapsing nature of the disease, lack of diagnostic tests, and the absence of clear clinicopathologic criteria for establishing the diagnosis. Furthermore, patients may have only some of the classic clinical features; for example, patients may present with only unilateral auricular chondritis or isolated nasal chondritis.

Diagnostic evaluation — The most important tool to achieve the diagnosis of RPC is the clinical history. A complete and detailed review of systems is critical to establish the diagnosis. Laboratory testing is used mainly to rule out other conditions that can mimic RPC. Biopsy is not necessary when the clinical diagnosis is evident.

Additional studies are required to establish the extent and severity of disease and organ damage. (See 'Post-diagnostic evaluation' below.)

History and physical examination — Patients should undergo a thorough medical history and physical examination.

History – A detailed review of systems is crucial to understand the degree of organ involvement over time. It is important to elicit specific characteristics, such as symptom onset, triggers, duration, and associated symptoms. For example, a patient presenting with ear chondritis should be asked about associated symptoms, such as erythema and swelling, and whether ear tenderness is triggered by minimal trauma. (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 pay particular attention to the external ears, auditory canals, nasal contour, eyes, skin, and joints (including the costochondral joints). The cardiopulmonary examination should include auscultation for stridor, wheeze, regurgitant heart murmurs and abdominal bruits. (See "Clinical manifestations of relapsing polychondritis", section on 'Clinical manifestations'.)

Laboratory testing

To exclude other condition – There are no specific laboratory blood tests used to diagnose RPC. However, some testing may be required to exclude other conditions that may mimic RPC, such as a complete blood count and differential and a C-reactive protein (CRP) if infection is suspected. In a patient with unilateral chondritis, the erythrocyte sedimentation rate (ESR) is often normal in patients with active RPC. In male patients with ear, nose chondritis, thrombocytopenia, and macrocytic anemia, it is important to rule out vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. (See 'Differential diagnosis' below and 'Auricular inflammation' below and "Autoinflammatory diseases mediated by NFkB and/or aberrant TNF activity", section on 'Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome'.)

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.)

Identify 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.)

Limited role for tissue biopsy — Biopsy is not necessary for the diagnosis of RPC when the diagnosis can be established based on clinical findings (see 'Diagnostic criteria' above). For example, a patient with ear, nasal cartilage, and tracheal inflammation would not need a confirmatory biopsy. Biopsy may be useful when infection is highly suspected or in cases when the clinical diagnosis is uncertain (eg, without a clear multiorgan cartilaginous inflammatory syndrome or nonresponse to prednisone). For individuals who have unilateral auricular inflammation that does not respond to antibiotics or a trial of prednisone, biopsy should usually be performed to rule out an infiltrating disorder of the skin, such as leukemia cutis or cutaneous lymphoma. (See 'Auricular inflammation' below.)

However, biopsy has overall limited utility for diagnosis of RPC for the following reasons:

There are no pathognomic findings associated with the diagnosis

Histologic changes will vary depending on the stage of the disease

An unremarkable biopsy does not rule out RPC

Biopsy may induce inflammation of the local tissues

If biopsy is done to evaluate for possible infection, the tissue should be sent for routine histopathology as well as stains and cultures for fungi and mycobacteria.

The pathologic findings in RPC are described in detail separately. (See "Pathology of relapsing polychondritis".)

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 'Baseline testing' 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]. In a patient with already diagnosed RPC, it is prudent to have a baseline evaluation by an ophthalmologist. (See 'Baseline testing' below.)

Pulmonary function tests and chest computed tomography – In patients with cough, dyspnea, stridor, or wheezing, pulmonary function tests (PFTs; including flow-volume loops) and computed tomography (CT) of the chest (including inspiratory and expiratory images) should be obtained. The main reason for obtaining PFTs is to exclude alternate conditions (eg, asthma), although, in select patients, they may be useful for tracking progression of disease affecting the large airways. PFTs may fail to demonstrate upper airway collapse; thus, a chest CT is also recommended in patients with respiratory symptoms.

Synovial fluid analysis – Joint aspiration and synovial fluid analysis should only 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. Patients with RPC can have a symmetric, small joint polyarthritis (like rheumatoid arthritis), an oligoarthritis (like a spondyloarthritis), or involvement of just the large joints.

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 and (in some cases) destructive inflammatory lesions involving cartilaginous structures throughout the body, sensory organs, and the cardiovascular system. However, the variable, unpredictable expression of clinical features over time may make the diagnosis difficult to distinguish from other conditions with overlapping features. 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 1A-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 are classic manifestations of RPC; however, this complication is only seen in a minority of patients (picture 2). Other conditions that can present with saddle nose deformity include 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 – Although most commonly seen in children, epiglottitis can occur in adults and must always be considered when suspecting an upper airway obstruction. It presents with sudden-onset pharyngitis 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. Rhinoscleroma can affect the nasal cavity, larynx, trachea, and bronchi. In the initial stage, patients complain of rhinorrhea; in later stages, patients develop a cicatricial disease with dense fibrotic tissue infiltrating the nose, larynx, or trachea [9]. The 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. However, patients with pemphigus vulgaris usually have involvement of other sites, such as the mouth and genitals. (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, atypical 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, nervous system involvement, and the presence of ANCA.

Biopsy of an affected organ may help distinguish GPA from RPC. Clinically, GPA is more likely to be associated with glomerulonephritis, cavitary lung lesions, saddle nose deformity, and subglottic stenosis, while RPC is more likely to be associated with ear chondritis and dynamic tracheal or bronchial collapse. (See "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis".)

Systemic inflammatory polyarthritis — The polyarthritis of RPC 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 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 may 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 conditions 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 do not distinguish inflammatory symptoms in RPC from other conditions such as fibromyalgia, but the diagnosis 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.

Baseline testing — 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, including a hearing test, should be performed in all patients who are diagnosed with RPC.

Ophthalmology evaluation – A complete ophthalmological evaluation should be performed in any patient with suspicion of RPC to evaluate for posterior uveitis and obtain a baseline examination.

Baseline pulmonary function testing – Complete spirometry with both maximal inspiratory and expiratory flow-volume loops should be performed. (See 'Pulmonary function testing' below.)

Computed tomography of the chest – All the patients with a diagnosis of RPC should have dynamic CT (inspiratory and expiratory images) of the chest at baseline regardless of the findings on the pulmonary function testing (PFT). CT of the chest should be done to evaluate for tracheomalacia, tracheal thickening, tracheal calcification, bronchomalacia, bronchial thickening, and air trapping. (See 'Computed tomography' below and 'Evaluation for cardiac involvement' below.)

Echocardiography – Transthoracic echocardiogram should be obtained to evaluate for valvulopathies and right-sided pressures.

Kidney function and urine – Creatinine and urinalysis is mandatory in all patients at time of diagnosis. Kidney involvement in RPC is very rare; therefore, the presence of kidney involvement should prompt the consideration of other conditions including early antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis.

Complete blood count – Any male patient with refractory inflammation and macrocytic anemia of unknown etiology should be tested for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.

Antineutrophil cytoplasmic antibody panel – ANCA testing should be done in all patients.

Subsequent testing — Following the initial evaluation, we suggest the following tests in specific scenarios:

Computed tomography of the chest – We suggest a CT of the chest to evaluate patients with unexplained acute phase reactant elevation, looking for evidence of an occult aortitis or findings consistent with other diagnoses (eg, infection, malignancy).

Bronchoscopy – In patients with an abnormal CT scan, a bronchoscopy should be considered if it would assist in diagnosis and management. For 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 (GPA) affecting the airway. (See 'Bronchoscopy' 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 – 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, magnetic resonance imaging (MRI), 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, Behçet syndrome or an ANCA-associated 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. PFT and chest radiography should be obtained in all patients (see 'Pulmonary function testing' 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 — PFT 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 tests for reversibility and both maximal inspiratory and expiratory flow-volume loops (figure 1) (see "Flow-volume loops"). However, changes in PFT reflect advanced disease and should not be use to follow disease activity. Additionally, patients with RPC often have asthma; therefore, PFTs should also evaluate the patient for reversible obstruction.

Imaging

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 a diagnosis of RPC. CT scanning is more useful than conventional tomograms and laryngotracheograms in evaluating laryngotracheal bronchial wall thickening, luminal narrowing, and cartilaginous calcification [11,12].

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 scan [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]. Many 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. Additional studies are indicated in selected patients. The following findings may be seen:

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 a diagnosis of RPC. Early valvular involvement may be asymptomatic, but hemodynamically significant aortic or mitral regurgitation is rarely present at initial diagnosis.

Other testing for vascular involvement – In patients with suspected vasculitis, CT angiogram (or another vascular imaging study) of the appropriate vascular territories should be performed to evaluate the extent of the inflammation or damage. Aphthosis and Raynaud’s phenomenon are risk factors for the presence of large vessel vasculitis.

SUMMARY AND RECOMMENDATIONS

Disease definition – Relapsing polychondritis (RPC) is a systemic inflammatory debilitating disease process that may potentially compromise the structural and functional integrity of cartilage, sensory organs, and the cardiovascular and nervous systems (table 1). (See "Clinical manifestations of relapsing polychondritis".)

Diagnosis – The diagnosis is based on empirically derived clinical 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). There is no single reliable diagnostic laboratory test for RPC. Biopsy is not necessary when the diagnosis can be established on clinical grounds, but it may be useful to rule out other diagnoses. (See 'Diagnosis' above.)

Differential diagnosis – The differential diagnosis for RPC is broad and depends on the specific clinical manifestations present (eg, auricular inflammation, saddle nose deformity, airway narrowing, ocular inflammation, systemic inflammation, aortitis, or chest wall pain). (See 'Differential diagnosis' above.)

Evaluation – The initial diagnostic evaluation for RPC should include a thorough medical history and physical examination, with particular attention to the ears, nose, eyes, skin, joints, and cardiopulmonary examination. We also suggest evaluation by an otolaryngologist for all patients (including hearing tests) due to the prominent involvement of the ear, nose, and respiratory tract in RPC.

There are no specific blood tests used to diagnose RPC. Tissue biopsy is generally used to exclude other diagnoses, such as infection. (See 'Diagnostic evaluation' above.)

Post-diagnostic studies – For all patients with RPC, we suggest baseline pulmonary function tests (with flow-volume loops), chest CT (with inspiratory and expiratory views), transthoracic echocardiogram, serum creatinine, urinalysis, complete blood count, and an antineutrophil cytoplasmic antibody (ANCA) panel. (See '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. (See 'Evaluation for pulmonary involvement' above.)

A baseline transthoracic echocardiogram is necessary to evaluate for valvulopathies. (See 'Evaluation for cardiac involvement' above.)

Glomerulonephritis is an uncommon manifestation of RPC, and its presence should trigger an evaluation for alternate diagnoses. (See 'Granulomatosis with polyangiitis' above and "Granulomatosis with polyangiitis and microscopic polyangiitis: Clinical manifestations and diagnosis", section on 'Evaluation'.)

A positive ANCA test does not exclude the possibility of RPC or the presence of an overlap syndrome, which may influence the treatment selection. (See 'Granulomatosis with polyangiitis' above and "Granulomatosis with polyangiitis and microscopic polyangiitis: Induction and maintenance therapy", section on 'Initial treatment approach'.)

A macrocytic anemia in a male patient should prompt consideration for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. (See 'Laboratory testing' above and "Autoinflammatory diseases mediated by NFkB and/or aberrant TNF activity", section on 'Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome'.)

ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges Clement J Michet, MD, who contributed to an earlier version of this topic review.

  1. McAdam LP, O'Hanlan MA, Bluestone R, Pearson CM. Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine (Baltimore) 1976; 55:193.
  2. Damiani JM, Levine HL. Relapsing polychondritis--report of ten cases. Laryngoscope 1979; 89:929.
  3. Fukuda K, Mizobuchi T, Nakajima I, et al. Ocular Involvement in Relapsing Polychondritis. J Clin Med 2021; 10.
  4. Thompson LD. Chondrodermatitis nodularis helicis. Ear Nose Throat J 2007; 86:734.
  5. Moncrieff M, Sassoon EM. Effective treatment of chondrodermatitis nodularis chronica helicis using a conservative approach. Br J Dermatol 2004; 150:892.
  6. Zuber TJ, Jackson E. Chondrodermatitis nodularis chronica helicis. Arch Fam Med 1999; 8:445.
  7. Lambru G, Miller S, Matharu MS. The red ear syndrome. J Headache Pain 2013; 14:83.
  8. Raieli V, Compagno A, D'Amelio M. Red Ear Syndrome. Curr Pain Headache Rep 2016; 20:19.
  9. Verma G, Kanawaty D, Hyland R. Rhinoscleroma causing upper airway obstruction. Can Respir J 2005; 12:43.
  10. Krell WS, Staats BA, Hyatt RE. Pulmonary function in relapsing polychondritis. Am Rev Respir Dis 1986; 133:1120.
  11. Behar JV, Choi YW, Hartman TA, et al. Relapsing polychondritis affecting the lower respiratory tract. AJR Am J Roentgenol 2002; 178:173.
  12. Lin ZQ, Xu JR, Chen JJ, et al. Pulmonary CT findings in relapsing polychondritis. Acta Radiol 2010; 51:522.
  13. Lee KS, Ernst A, Trentham DE, et al. Relapsing polychondritis: prevalence of expiratory CT airway abnormalities. Radiology 2006; 240:565.
  14. Fornadley JA, Seibert DJ, Ostrov BE, Warren WS. The role of MRI when relapsing polychondritis is suspected but not proven. Int J Pediatr Otorhinolaryngol 1995; 31:101.
  15. Heman-Ackah YD, Remley KB, Goding GS Jr. A new role for magnetic resonance imaging in the diagnosis of laryngeal relapsing polychondritis. Head Neck 1999; 21:484.
  16. Dupont A, Bossuyt A, Somers G. Relapsing polychondritis: gallium-67 uptake in recurrent lung lesions. J Nucl Med Allied Sci 1983; 27:57.
  17. Chang MC, Tsai SC, Lin WY. Value of gallium-67 scanning in monitoring therapeutic effectiveness in a patient with relapsing polychondritis. Kaohsiung J Med Sci 2008; 24:328.
  18. Kao CH, Wang SJ, Yeh SH. Radionuclide imaging of relapsing polychondritis. Clin Nucl Med 1992; 17:397.
  19. Shi XH, Zhang FC, Chen LB, Ouyang M. The value of 99mTc methylene diphosphonate bone scintigraphy in diagnosing relapsing polychondritis. Chin Med J (Engl) 2006; 119:1129.
  20. Murgu S, Kurimoto N, Colt H. Endobronchial ultrasound morphology of expiratory central airway collapse. Respirology 2008; 13:315.
  21. Nishiyama Y, Yamamoto Y, Dobashi H, et al. [18F]fluorodeoxyglucose positron emission tomography imaging in a case of relapsing polychondritis. J Comput Assist Tomogr 2007; 31:381.
  22. Yamashita H, Takahashi H, Kubota K, et al. Utility of fluorodeoxyglucose positron emission tomography/computed tomography for early diagnosis and evaluation of disease activity of relapsing polychondritis: a case series and literature review. Rheumatology (Oxford) 2014; 53:1482.
  23. Okuda S, Hirooka Y, Itami T, et al. FDG-PET/CT and Auricular Cartilage Biopsy Are Useful for Diagnosing with Relapsing Polychondritis in Patients without Auricular Symptoms. Life (Basel) 2021; 11.
  24. Sharma A, Kumar R, Mb A, et al. Fluorodeoxyglucose positron emission tomography/computed tomography in the diagnosis, assessment of disease activity and therapeutic response in relapsing polychondritis. Rheumatology (Oxford) 2020; 59:99.
  25. Deng H, Chen P, Wang L, et al. Relapsing polychondritis on PET/CT. Clin Nucl Med 2012; 37:712.
Topic 5609 Version 32.0

References

آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟