Relapsing polychondritis
Relapsing polychondritis is a rare autoimmune disease that causes episodic, destructive inflammation of cartilage in the ears, nose, airway, and joints, with lobule-sparing auricular chondritis and saddle-nose deformity as its most distinctive signs; treatment is severity-based, from NSAIDs and dapsone for mild disease to high-dose glucocorticoids and steroid-sparing immunosuppressants for severe or organ-threatening disease.
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What this article covers
- Overview
Autoimmune cartilage disease: relapsing polychondritis is a rare condition causing episodic, destructive inflammation and eventual destruction of cartilaginous tissues throughout the body.
- Epidemiology
Rare disease: the annual incidence is approximately 3.5 cases per 1 million people.
- Risk factors
Human leukocyte antigen (HLA)-DR4 positivity: this genetic association supports susceptibility to an autoimmune cause.
- Pathophysiology
Autoimmune attack on cartilage: the pathogenesis is poorly understood, but antibodies directed against cartilage components, including type II collagen, are sometimes present and support an…
- Clinical features
Auricular chondritis with lobule sparing: redness, swelling, and tenderness of the helix and antihelix of the external ear is the most apparent and characteristic presentation; the ear lobe, which…
- Differential diagnosis
Auricular hematoma: trauma-associated collection of blood beneath the auricular perichondrium; unlike relapsing polychondritis, it is not spontaneously episodic and classically follows a discrete…
- Diagnosis
Clinical diagnosis; no specific diagnostic test exists: relapsing polychondritis is diagnosed clinically on the characteristic pattern of chondritis, most apparently redness and swelling (later…
- Management
Assess severity first: classify the presentation as mild (isolated auricular/nasal chondritis or arthralgia, no organ threat) or acute/severe (airway, ocular, vascular, cardiac valve, or central…
- Complications
Airway obstruction: tracheal ring involvement can cause life-threatening airway obstruction requiring surgical intervention; the most feared complication.
- Prognosis
Airway and cardiac valve involvement drive the most serious outcomes: these manifestations carry the greatest morbidity and should prompt aggressive immunosuppressive treatment.
- Prevention
No known primary prevention: the etiology is autoimmune and idiopathic, with no established modifiable risk factor or screening test to prevent onset.
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