Relapsing polychondritis — Viva

Stimulus

A photograph shows a painful erythematous swollen cartilaginous pinna with relative sparing of the lobule. The patient reports a previous similar episode.^[1][3]

Q1 — Describe before diagnosing

Examiner: What do you see, and what is your leading diagnosis?^[1]

Candidate: This is auricular chondritis affecting the cartilaginous pinna with relative lobule sparing. Recurrent auricular chondritis raises relapsing polychondritis (RP), but the image alone is not diagnostic.^[1][3]

Branch — if the candidate says lobule sparing proves RP: Infectious auricular perichondritis can also spare the lobule. Lobule involvement favours pinna cellulitis, but neither sign is absolute. Ask about piercing, trauma, abscess, discharge, fever and systemic cartilage or organ features.^[1][3]

Q2 — Build the clinical diagnosis

Examiner: How would you support or challenge RP?^[1][3]

Candidate: I would map recurrent auricular, nasal and laryngotracheal chondritis; ocular inflammation; hearing or vestibular loss; and non-erosive inflammatory arthritis. I would seek skin, cardiovascular and renal clues and actively exclude infection, GPA, VEXAS and phenotype-directed alternatives. There is no specific laboratory test.^[1][3]

Branch — if asked for criteria: McAdam, Damiani–Levine and Michet are historical frameworks. McAdam uses six clinical domains; Damiani–Levine adds histology or separate-site response pathways; Michet centres on auricular, nasal and laryngotracheal inflammation plus other features. They are aids, not a prospectively validated gold standard.^[4][5][6]

Branch — if asked for biopsy: Biopsy can support chondritis in an atypical or consequentially uncertain case but is non-specific and does not replace exclusion of infection or vasculitis.^[1][3]

Q3 — Airway branch

Examiner: The patient now reports hoarseness. What changes?^[8]

Candidate: Hoarseness may indicate laryngeal or tracheobronchial chondritis with fixed stenosis or dynamic collapse. I would immediately assess voice, stridor, work of breathing, oxygenation, exhaustion and symptom trajectory.^[8]

Branch — if stridor, distress, hypoxaemia or rapid progression is present: I would begin ABC stabilisation, call senior anaesthesia, ENT, respiratory and ICU teams, and prepare an expert difficult-airway plan. I would not delay airway control for CT, pulmonary-function tests or bronchoscopy. Anti-inflammatory therapy cannot substitute for mechanical rescue of a threatened airway.^[3][8]

Branch — if the patient is stable: I would arrange urgent specialist airway staging rather than reassure on the absence of stridor, because clinically important disease can precede overt obstruction.^[7][8]

Q4 — Investigate a stable airway safely

Examiner: Give the airway investigations precisely.^[7][8]

Candidate: CT should include the larynx/cervical trachea and chest with inspiratory and dynamic expiratory acquisitions. I would add pulmonary-function tests with flow-volume loops and use ENT laryngoscopy according to symptoms and expertise. Routine inspiratory CT can miss expiratory malacia and air trapping.^[7][8]

Branch — if bronchoscopy is proposed routinely: Bronchoscopy is selected, not automatic. Expert teams should first weigh benefit against the risks of airway injury, bronchospasm and respiratory deterioration.^[8]

Branch — if asked for other baseline tests: Full blood count and indices, CRP/ESR, renal/liver profile and urinalysis; cultures for suspected infection; ANCA and other immunology only to address differentials. Add ECG/echocardiography, ophthalmology and audiology according to baseline phenotype and symptoms.^[1][3]

Q5 — Differential branches

Examiner: Distinguish the two closest immediate mimics.^[1][3]

Candidate: Infectious perichondritis is supported by piercing or trauma, abscess, discharge, culture results or systemic infection; it can still spare the lobule. GPA is supported by destructive sinonasal disease with pulmonary or renal involvement and PR3-ANCA, but a negative ANCA does not exclude it.^[1][3]

Branch — if recurrent oral and genital ulcers are added: Consider Behçet disease or the descriptive MAGIC overlap phenotype rather than forcing all inflammation into RP.^[1]

Branch — if erosive arthritis is added: Reconsider rheumatoid arthritis or another overlap because typical RP arthritis is non-erosive.^[1]

Q6 — Severity-led treatment

Examiner: How would you treat RP?^[2][3]

Candidate: I would first exclude infection and treat the current organ threat. Mild ear, nose or joint disease may be managed with an NSAID, colchicine or a short oral glucocorticoid course. Organ-, vision- or life-threatening inflammation usually requires systemic glucocorticoids with urgent multidisciplinary care. Recurrent or glucocorticoid-dependent disease needs a steroid-sparing plan, commonly methotrexate, with azathioprine or mycophenolate as alternatives; cyclophosphamide is reserved for selected severe refractory organ disease.^[3][11]

Branch — if asked for a steroid dose: A narrative review reports prednisone-equivalent 0.25–1 mg/kg/day and IV methylprednisolone 500–1,000 mg/day for rapid effect in severe disease. These are empirical reported ranges, not a universal RP protocol; the specialist individualises dose, duration and taper.^[11]

Branch — if disease remains refractory: TNF inhibitors, tocilizumab, abatacept, rituximab, anakinra and other targeted drugs have been used. The systematic review found no RCT and only 11 heterogeneous observational reports involving 177 patients, so pooled response signals do not establish a reliable biologic hierarchy or predict an individual's response.^[2]

Branch — if fixed stenosis or malacia remains: Expert airway teams individualise balloon dilatation, tracheostomy, stenting or reconstruction. A procedure does not replace control of active inflammation, and stents carry important granulation and mucostasis risks.^[8]

Q7 — VEXAS branch

Examiner: How does the answer change in a man with onset after midlife, fever and macrocytic anaemia?^[9][10]

Candidate: I would consider VEXAS syndrome, particularly with cytopenias, neutrophilic skin disease, venous thrombosis, pulmonary infiltrates or myelodysplasia, and request haematology input and somatic UBA1 testing.^[9][10]

Branch — if asked where the vacuoles are: The characteristic vacuoles are in bone-marrow myeloid and erythroid precursor cells, not a routine peripheral-blood-film hallmark. They support suspicion but are not genetic proof; confirmation is by a pathogenic somatic UBA1 variant.^[9][10]

Branch — if marrow vacuoles are absent: I would not use absence alone to rule out VEXAS when the phenotype is compelling; I would discuss the appropriate assay and specimen with haematology/genetics rather than apply an unvalidated screening threshold.^[9][10]

Q8 — Complications, follow-up and evidence boundary

Examiner: What must follow-up prevent or detect?^[1][3]

Candidate: Fixed airway stenosis or malacia, recurrent respiratory infection, visual or hearing loss, auricular or nasal deformity, valvular or aortic disease, conduction abnormalities, treatment toxicity and a VEXAS/myelodysplasia phenotype. Follow-up is multidisciplinary and phenotype-led; no single test or fixed interval suits every patient.^[1][3]

Branch — if asked for the key evidence limitation: RP is rare. Comparative treatment evidence is observational and heterogeneous, with no randomised trial in the 2022 systematic review. I would state uncertainty, avoid promising response and individualise treatment with the patient and specialist team.^[2]

Closing One-Liner

Recurrent cartilage inflammation with lobule sparing suggests RP, but I would confirm the multisystem pattern, exclude infection/GPA/VEXAS, stabilise any threatened airway before testing, and use severity-led treatment while acknowledging that the drug evidence is observational.^[1][2][8]

References11ShowHide

1. [1]Mertz P, Costedoat-Chalumeau N, Ferrada MA, et al. Relapsing polychondritis: clinical updates and new differential diagnoses Nat Rev Rheumatol, 2024.PMID 38698240
2. [2]Petitdemange A, Sztejkowski C, Damian L, et al. Treatment of relapsing polychondritis: a systematic review Clin Exp Rheumatol, 2022.PMID 35238756
3. [3]Arnaud L, Costedoat-Chalumeau N, Mathian A, et al. French practical guidelines for the diagnosis and management of relapsing polychondritis Rev Med Interne, 2023.PMID 37236870
4. [4]McAdam LP, O'Hanlan MA, Bluestone R, et al. Relapsing polychondritis: prospective study of 23 patients and a review of the literature Medicine (Baltimore), 1976.PMID 775252
5. [5]Damiani JM, Levine HL Relapsing polychondritis--report of ten cases Laryngoscope, 1979.PMID 449538
6. [6]Michet CJ Jr, McKenna CH, Luthra HS, et al. Relapsing polychondritis. Survival and predictive role of early disease manifestations Ann Intern Med, 1986.PMID 3484422
7. [7]Lee KS, Ernst A, Trentham DE, et al. Relapsing polychondritis: prevalence of expiratory CT airway abnormalities Radiology, 2006.PMID 16801364
8. [8]de Montmollin N, Dusser D, Lorut C, et al. Tracheobronchial involvement of relapsing polychondritis Autoimmun Rev, 2019.PMID 31323366
9. [9]Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease N Engl J Med, 2020.PMID 33108101
10. [10]Ferrada MA, Sikora KA, Luo Y, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS Arthritis Rheumatol, 2021.PMID 33779074
11. [11]Borgia F, Giuffrida R, Guarneri F, et al. Relapsing Polychondritis: An Updated Review Biomedicines, 2018.PMID 30072598