relapsing polychondritis

Introduction

Episodic & often progressive inflammatory disorder affecting the cartilage of the ear, nose & tracheobronchial tree.

Etiology

• idiopathic
• antibodies to type II collagen
• 30% have another connective tissue disease
  • systemic vasculitis (most common)
    • leukocytoclastic vasculitis
    • polyarteritis nodosa
    • temporal arteritis
    • Takayasu's arteritis
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • Sjogren's syndrome

Epidemiology

• most common between age 40-60, but may affect children or elderly
• relatively uncommon
• all races

Pathology

• inflammation & damage to cartilage
• depletion of proteoglycan from cartilage matrix
• inflammatory infiltrate of mononuclear cells & occasional plasma cells adjacent to involved cartilage
• neutrophils may be present in acute disease
• destruction of cartilage begins at outer edges & continues centrally
• lacunar breakdown & loss of chondrocytes
• degenerating cartilage is replaced by granulation tissue, & later by fibrosis & focal areas of calcification
• small focal areas of cartilage regeneration may be present
• immunoglobulin & complement detected by immunofluorescence at sites of involved cartilage
• loss of cartilage matrix hypothesized secondary to action of proteolytic enzymes released by chondrocytes & inflammatory cells activated by cytokines

Clinical manifestations

• involvement of ears, nose, larynx, trachea, & joints
• auricular chondritis (40%/85%)*
  • both ears generally involved
  • sudden onset of pain, tenderness & swelling of cartilagenous portion of ear
  • earlobes are spared because they do not contain cartilage
  • overlying skin is red or violaceous
  • recurrent episodes result in droopy ears
• cochlear or vestibular dysfunction
  • hearing loss (10%/30%)*
  • tinnitus & or vertigo
• nasal chondritis (25%/55%)*
  • nasal stuffiness
  • rhinorrhea
  • epistaxis
• saddle nose deformity (20%/30%)*
• ocular deformity/disorder (20%/50%)*
  • conjunctivitis, episcleritis, scleritis, iritis, keratitis
  • ulceration & perforation of the cornea
  • eyelid & periorbital edema
  • proptosis
  • cataracts
  • optic neuritis
  • extraocular muscle palsies
  • retinal vasculitis & retinal vein occlusion
• respiratory disease (25%/50%)*
  • mucosal edema & strictures
  • laryngeal chondritis or tracheal chondritis (50%)
  • expiratory collapse of major airways
    • collapse of laryngeal, tracheal or bronchial cartilage (late manifestation)
    • airway obstruction requiring emergency tracheostomy
  • hoarseness, non-productive cough
  • pneumonia
  • 50% of deaths due to respiratory complications
• arthritis (35%/50%)*
  • asymmetric
  • involves both large & small peripheral joints
  • generally lasts a few days to several weeks & resolves spontaneously without deformity
• aortic regurgitation ( /5%)*
• vasculitis (3%/10%)*
  • seizures
  • stroke
  • peripheral neuropathies
• other manifestations
  • polyarthritis
  • cardiac abnormalities
    • aortic regurgitation (5%)
    • pericarditis
    • myocarditis
    • conduction abnormalities
  • skin lesions
    • erythema nodosum
    • erythema multiforme
    • urticaria & angioedema
    • purpura
    • livedo reticularis
    • panniculitis
  • glomerulonephritis may occur in the absence of systemic vasculitis
• relapsing course with exacerbations & remissions

* (presenting/cumlative frequencies)

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Diagnostic criteria

• 3 of the following 6
  • recurrent bilateral auricular chondritis (90%)
  • non-erosive inflammatory polyarthritis (65%)
  • nasal chondritis (60%)
  • ocular inflammation: conjuctivitis, keratitis, scleritis, episcleritis, uveitis (55%)
  • laryngeal chondritis or tracheal chondritis (50%)
  • cochlear &/or vestibular dysfunction: tinnitus &/or vertigo, neurosensory hearing loss (10%)

Laboratory

• complete blood count (CBC)
  • mild leukocytosis
  • normocytic, normochromic anemia
• elevated erythrocyte sedimentation rate (ESR)
• serology
  • rheumatoid factor (RF) & anti-nuclear antibody (ANA) are often positive in low titers
  • antibodies to type II collagen are positive in most patients, but non-specific
  • circulating immune complexes may be detected
  • ANCA (cANCA or pANCA) are positive in some
• abnormal liver function tests (LFTs)
• polyclonal gammopathy may be present
• biopsy of cartilagenous portion of ear

Diagnostic procedures

• bronchoscopy if indicated
• pulmonary function testing with flow volume loops

Radiology

• chest X-ray
• computed tomography (CT) of thorax
  • tracheal thickening (spares posterior membrane)
  • few tracheal calcifications Differential diagnisis:
• granulomatosis with polyangiitis (Wegener's granulomatosis)
  • pauci-immune glomerulonephritis
• sarcoidosis
  • hilar lymphadenopathy
  • pinna inflammation uncommon
• Behcet disease
  • recurrent oral ulcers & genital ulcers

Complications

• myelodysplastic syndrome has been reported in several patients with relapsing polychondritis
• ulceration & perforation of the cornea
• pericarditis & myocarditis
• 50% of deaths due to respiratory complications

Management

• prednisone
  • 40-60 mg PO QD for active chondritis or vasculitis
  • taper after disease is controlled
  • in some patients prednisone may be stopped
  • 10-15 mg PO QD may be required to maintain remission
• NSAIDs for chronic disease management
• immunosuppressive agents
  • indicated for patients who fail prednisone therapy
  • azathiaprine
  • cyclophosphamide
• cyclosporine or dapsone may benefit some patients
• rituximab of little benefit
• intraocular steroids plus systemic glucocorticoids for significant ocular inflammation

More general terms

• musculoskeletal disease/disorder
• connective tissue disease; soft tissue disease

Additional terms

• collagen type-2
• saddle nose deformity

Patient information

relapsing polychondritis patient information