Relapsing polychondritis !

A rare autoimmune disease that inflames cartilage of the ears, nose and airway in repeated attacks and can collapse the windpipe.

Updated 2026-11-01

Structures involved

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Why it happens

What it is

A rare immune-mediated disease with recurrent attacks of inflammation of cartilage and other tissues rich in proteoglycans: the ear, nose, larynx, trachea and bronchi, joints, eyes, inner ear and heart valves. Typical findings are a red painful ear that spares the earlobe and a saddle-nose deformity. Airway and cardiovascular involvement cause most deaths.

Who gets it

Very rare, with an estimated incidence of about 3 per million people per year. Onset is most often between 40 and 60 years, both sexes are affected about equally, and it occurs in all ethnic groups, including Latin American patients. About a third of cases occur with another disease such as a systemic vasculitis, a connective tissue disease or myelodysplastic syndrome.

Causes

Autoimmune attack against cartilage components such as type II collagen and matrilin-1
Genetic susceptibility (HLA-DR4)
Association with systemic vasculitis, rheumatoid arthritis, lupus and myelodysplastic syndrome
VEXAS syndrome: somatic UBA1 mutations in blood cells of older men that cause a relapsing polychondritis–like illness with macrocytic anaemia

Risk factors

Age 40 to 60 years
Other autoimmune disease
Myelodysplastic syndrome (especially in older men)
Possible triggers: trauma to the cartilage, such as ear piercing

Pathophysiology

Antibodies and T cells target cartilage matrix proteins. Inflammatory cells infiltrate the junction between cartilage and perichondrium, enzymes break down the matrix, and the cartilage is replaced by fibrous tissue. Loss of the cartilage framework makes the ear floppy, the nasal bridge collapse and the tracheal and bronchial walls soften (malacia) or narrow (stenosis). The same process affects the sclera, the aortic root and the cochlea.

Classification

McAdam criteria: at least three of bilateral auricular chondritis, non-erosive seronegative polyarthritis, nasal chondritis, ocular inflammation, respiratory tract chondritis and audiovestibular damage
Damiani modification: allows diagnosis with fewer features plus biopsy or response to treatment
Isolated form versus forms associated with vasculitis, connective tissue disease or myelodysplasia (including VEXAS)

Symptoms and signs

Sudden red, swollen, painful outer ear that spares the earlobe (no cartilage there)
Nasal pain and redness, later a saddle-nose deformity
Hoarseness, cough, wheeze or stridor from laryngotracheal disease
Red painful eyes (episcleritis, scleritis, uveitis)
Sudden hearing loss, tinnitus or vertigo
Migratory non-erosive arthritis and chest wall pain at the costochondral joints

Diagnosis

Clinical: Diagnosis is clinical, based on typical inflammation of two or more cartilaginous sites using the McAdam or Damiani criteria. Bilateral auricular chondritis that spares the lobe is highly suggestive. Biopsy is reserved for unclear cases.
Tests: There is no specific blood test: ESR and CRP are raised in flares, and anaemia may be present. Blood count and smear (macrocytosis, cytopenias) and UBA1 testing in older men for VEXAS. Urinalysis and creatinine. ANCA, ANA and rheumatoid factor to look for associated diseases. Pulmonary function tests with flow-volume loops detect airway obstruction. Biopsy of affected cartilage shows chondritis.
Imaging: CT of the larynx and chest with inspiratory and expiratory images shows wall thickening, stenosis and malacia; bronchoscopy in selected cases. Echocardiography for the aortic valve and root. PET-CT can show active chondritis. Audiometry and eye examination in every patient.

Differential diagnosis

Infectious perichondritis of the ear (usually unilateral, often after piercing, Pseudomonas)
Granulomatosis with polyangiitis (saddle nose, ANCA positive, granulomas)
Traumatic auricular haematoma (cauliflower ear)
Congenital syphilis and leprosy (saddle nose)
Cogan syndrome (eye and inner ear inflammation)
Rheumatoid arthritis with scleritis

Goal of treatment

Control inflammation quickly to save the cartilage of the airway, eyes, ears and aortic root, keep long-term remission with the lowest glucocorticoid exposure, and secure the airway when it is compromised.

Treatment

Medical: Mild disease (ear, nose or joint only): NSAIDs, dapsone or colchicine, with short courses of glucocorticoids.
Medical: Moderate to severe disease (eye, airway, heart, kidney): systemic glucocorticoids plus steroid-sparing agents such as methotrexate or azathioprine, or biologics (anti-TNF agents, tocilizumab); cyclophosphamide for organ- or life-threatening disease. VEXAS needs treatment directed at the blood disorder.
Procedure: Procedures: airway stents, dilation of stenoses or tracheostomy for airway collapse; aortic valve or root replacement for severe regurgitation or aneurysm; hearing aids.
Follow-up: Monitoring: regular pulmonary function tests, airway imaging, echocardiography, audiometry, eye checks and blood counts; nursing watches for stridor and keeps airway equipment ready during flares.

Complications

Tracheobronchial collapse or stenosis with respiratory failure and pneumonia
Aortic regurgitation and aortic aneurysm
Permanent sensorineural hearing loss and vestibular damage
Saddle-nose and floppy ear deformities
Vision loss from scleritis or uveitis

Prognosis

Course is relapsing over many years. Five-year survival has improved to about 75% to 95% with modern treatment. Outcome is worse with airway or cardiac involvement, associated systemic vasculitis and myelodysplastic syndrome or VEXAS.

Test yourself

Think of the answer, then tap the question to see it.

Which part of the ear is spared in auricular chondritis, and why?

The earlobe, because it contains no cartilage.

What are the main causes of death in relapsing polychondritis?

Airway collapse or stenosis (with infection) and cardiovascular involvement such as aortic regurgitation or aneurysm.

Which test is used to detect early airway obstruction?

Pulmonary function tests with flow-volume loops, together with inspiratory and expiratory CT.

What syndrome should be considered in an older man with polychondritis and macrocytic anaemia?

VEXAS syndrome (somatic UBA1 mutation), often associated with myelodysplasia.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: Relapsing Polychondritis - Symptoms, Causes, Treatment | NORD (National Organization for Rare Disorders (NORD), 2018).

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Representative model, for educational purposes only.

Auricle highlighted on the Durgical 3D model