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Joint pains, hoarseness, and deafness

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Q1: What is the most likely diagnosis and the differential diagnosis?

The most likely diagnosis is relapsing polychondritis. The combination of joint pains, saddle nose deformity and hoarseness of the voice, suggesting laryngeal or tracheal involvement, makes the diagnosis of relapsing polychondritis the most likely. The other possible differential diagnoses are listed in box 1. The causes of saddle nose deformity are listed in box 2.

Box 1: Differential diagnoses

  • Wegener's granulomatosis.

  • Polyarteritis nodosa.

  • Takayasu's arteritis.

  • Giant cell arteritis.

  • Rheumatoid arthritis.

  • Rheumatic fever.

  • Sarcoidosis.

  • Malignancy.

  • Systemic lupus erythematosus.

Box 2: Causes of saddle nose deformity

  • Relapsing polychondritis.

  • Wegener's granulomatosis.

  • Trauma.

  • Congenital syphilis.

  • Intranasal cocaine use.

  • Rheumatoid arthritis.

  • Racial/inherited.

  • Ectodermal dysplasia.

  • Down's syndrome.

  • Leprosy.

Q2: What further investigations should be performed?

Further investigations should include laryngoscopy and bronchoscopy to define the extent of laryngotracheal involvement. Computed tomography of the upper airway is a useful investigation1 and to a lesser extent pulmonary function tests. Serum antineutrophil cytoplasmic antibody should be checked to exclude the possibility of Wegener's granulomatosis. Tissue diagnosis can be confirmed by a biopsy specimen in patients with auricular chondritis but is not essential.2

Q3: How would you treat this condition?

Mild episodes of auricular and nasal chondritis and seronegative arthritis usually respond to non-steroidal inflammatory drugs with or without a low dosage of corticosteroid. More serious manifestations such as airway involvement, as in this patient, require high dose prednisolone and often cytotoxic drugs are needed.

Discussion

Relapsing polychondritis is an episodic systemic disorder characterised by recurrent widespread destruction involving cartilaginous structures. Attacks tend to vary in severity and duration usually lasting for days to weeks before resolving spontaneously. Presenting symptoms are most frequently auricular chondritis (90%), polyarthritis (80%), nasal chondritis (60%), ocular involvement (50%), and respiratory tract involvement (55%).2Respiratory involvement is the most serious manifestation of relapsing polychondritis. Oedema, stenosis, and collapse and disintegration of the cartilage results in tracheobronchial chondritis and subglottic stenosis causing collapse of the trachea and bronchi, pulmonary infections, and even asphyxia.3 Computed tomography is useful in assessing the respiratory involvement of the disease.1 Nasal chondritis develops often and repeated attacks may cause cartilage collapse with characteristic saddle nose deformity. Such changes may appear in the absence of clinically evident inflammation.4 Cardiovascular manifestations include systemic and central nervous system arteritis, aortic aneurysm, and valvular insufficiency. The auricle is classically painful and the commonest site of involvement.4 In addition the middle ear may be involved with eustachian tube dysfunction and collapse resulting in otitis media. The auditory-vestibular apparatus may be involved, resulting in sensorineural deafness. This is thought to be due to arteritis involving the internal auditory artery and is the likely cause of deafness in this patient.5 Approximately 25% of cases have coexistent diseases especially autoimmune diseases, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis, Sjögren's syndrome, thyroid disease, ulcerative colitis, and Wegener's granulomatosis.4 No specific laboratory test exists for relapsing polychondritis and findings are often non-specific: raised erythrocyte sedimentation rate, leukocytosis, anaemia, raised antistreptolysin-O titres, and occasionally positive rheumatoid factor or antinuclear factor.4 Detection of autoantibodies to type II collagen present in cartilage and sclera, and cell mediated immunity to cartilage components in patients with relapsing polychondritis, suggest an autoimmune aetiology.6 Histology of affected tissues shows perichondrial inflammation, with loss of basophilic staining of a cartilage matrix and areas of cartilage destruction with replacement of fibrous tissues.7 The natural history is unpredictable and may have an episodic, smouldering, or a fulminant course.4Mortality is usually secondary from respiratory complications such as airway collapse or pneumonia, aneurysm rupture, valvular heart disease, or vasculitis. Infective complications or malignancy from immunosuppressive drugs may occur. Most severe cases require steroids or immunosuppressant drugs.

Final diagnosis

Relapsing polychondritis.

References

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