Relapsing polychondritis

By Dr. Pascal Bafteh · last updated 09/2026

Definition & Epidemiology

• Relapsing polychondritis (relapsing polychondritis, RP) — rare autoimmune episodic cartilage inflammation that can affect all cartilaginous structures of the body (ear cartilage, nasal septum, trachea, larynx, joints, eyes, heart valves).
• Epidemiology: Incidence ~3–5/million/year; peak 40–60 years of age; women slightly more often.
• Associations: ~30% combined with other autoimmune diseases (RA, SLE, Sjögren, vasculitides, Myelodysplastic Syndrome — VEXAS syndrome!).

Pathogenesis

• Autoimmune reaction against Type II collagen + Matrilin-1.
• Genetic: associated with HLA-DR4 and (rarely) UBA1 mutation (VEXAS syndrome).
• Trigger factors: Infections, trauma, medications.

Clinical Features — McAdam Diagnostic Criteria

Auricular Chondritis** (most common initial finding, ~80%)

• Acute, painful livid-red, swollen auricle with sparing of the lobule — lobule sparing (no cartilage) is pathognomonic.
• Repeated flares → "Cauliflower Ear" due to cartilage destruction.

Nasal Chondritis** (~50%)

• Nasal bridge pain, redness, swelling; eventually saddle nose deformity.

Tracheobronchial Involvement** (~50%, life-threatening!)

• Hoarseness, cough, stridor, dyspnea; collapsing airway → emergency.
• The most common cause of death in RP is respiratory complication.

Ocular Involvement** (~50%)

• Episcleritis, Scleritis, Uveitis, Keratitis — frequently bilateral.

Polyarthritis** (~50%)

• Asymmetric, non-erosive, no deformity — DD to RA.

Audiovestibular** (~25%)

• Sensorineural hearing loss, tinnitus, vertigo.

Cardiovascular** (~25%)

• Aortic/mitral valve insufficiency, aortic aneurysm; obligatory cardiology consultation.

Diagnostic Criteria (McAdam, modified by Damiani)

• 1: Bilateral auricular chondritis
• 2: Non-erosive seronegative inflammatory polyarthritis
• 3: Nasal chondritis
• 4: Ocular involvement
• 5: Airway cartilage involvement
• 6: Audiovestibular damage

Diagnosis = ≥ 3 criteria OR 1 criterion + histology + treatment response.

Diagnostics

• Laboratory: ↑ ESR, CRP; Anti-Type II collagen antibodies (50%, not specific); ANA, ANCA for DD.
• Imaging: HRCT thorax (tracheal wall thickening, stenosis), echocardiography.
• Histology of ear biopsy: perichondrial lymphocyte-plasma cell infiltrate.
• Exclude DD VEXAS: UBA1 mutation in men > 50 years with MDS/refractory disease.

Differential diagnoses

• Erysipelas
• Angioedema
• Lupus erythematosus gesicht
• Erythema nodosum
• Erythema migrans (Lyme disease)
• GPA
• Erysipeloid

More connective tissue diseases

• Dermatomyositis
• Lupus erythematosus gesicht
• Morphea
• Raynaud syndrome

Note: This page is intended for medical education and does not replace diagnosis or treatment decisions in individual cases. Treatment and follow-up content is available in the app.