Relapsing Polychondritis

Acute pain, erythema, and swelling most commonly affect the pinna cartilage. Nasal cartilage inflammation is the next most common manifestation, followed by arthritis that varies from arthralgias to symmetric or asymmetric nondeforming arthritis involving large and small joints, with a predilection for the costochondral joints and knees.

The next most common manifestations, in decreasing order of frequency, are inflammation of the

• Eye (eg, conjunctivitis, scleritis, iritis, keratitis, chorioretinitis)

• Cartilaginous tissue of the larynx, trachea, or bronchi (causing hoarseness, cough, and tenderness over the laryngeal cartilage)

• Internal ear

• Cardiovascular system (eg, aortic regurgitation, mitral regurgitation, pericarditis, myocarditis, aortic aneurysms, aortitis)

• Kidney

• Skin

Bouts of acute inflammation heal over weeks to months, with recurrences over several years.

Relapsing Polychondritis (Ear)

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© Springer Science+Business Media

Advanced disease can lead to destruction of supporting cartilage, causing floppy ears, saddle nose, pectus excavatum, and visual, auditory, and vestibular abnormalities. Tracheal narrowing can lead to dyspnea, pneumonia, or even tracheal collapse. Coexisting systemic vasculitis (leukocytoclastic vasculitis or polyarteritis nodosa), myelodysplastic syndrome, or cancer is possible.

• Clinical criteria

• Sometimes biopsy

Diagnosis of relapsing polychondritis is established if the patient develops at least 3 of the following:

• Bilateral chondritis of the external ears

• Inflammatory polyarthritis

• Nasal chondritis

• Ocular inflammation

• Respiratory tract chondritis

• Auditory or vestibular dysfunction

Biopsy of involved cartilage, most often the pinna, is helpful if clinical diagnosis is not clear-cut but is rarely required.

Laboratory tests are not specific but are done when necessary to help exclude other disorders. Synovial fluid analysis reveals mild inflammatory changes that are nonspecific but help rule out an infectious process. Blood tests may show normocytic-normochromic anemia, leukocytosis, elevated erythrocyte sedimentation rate (ESR) or gamma-globulin levels, and occasionally positive rheumatoid factor, antinuclear antibodies (ANA), or, in up to 25% of patients, antineutrophil cytoplasmic antibodies (ANCA). Abnormal renal function may indicate an associated glomerulonephritis. A positive c-ANCA test (ANCA that are reactive mainly to proteinase-3) may suggest granulomatosis with polyangiitis, which can rarely cause chondritis.

The upper and lower airways should be evaluated, including complete spirometric testing and chest CT, when the diagnosis is made.

Older male patients with relapsing polychondritis who develop macrocytic anemia and thrombocytopenia may have VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, a rare disorder caused by a mutation in the UBA1 gene that encodes the enzyme-1-activating enzyme (E1) involved in intracellular destruction of defective proteins. Diagnosis is confirmed by bone marrow biopsy demonstrating vacuoles in blood precursor cells.

Mortality rates have decreased with newer therapies. Survival is now 94% after 8 years, with death typically resulting from collapse of laryngeal and tracheal structures or from cardiovascular complications such as large-vessel aneurysm, cardiac valvular insufficiency, or systemic vasculitis.

Patients with VEXAS syndrome may develop hematologic neoplasms such as myelodysplastic syndrome and multiple myeloma.

• Corticosteroids

If combination immunosuppressive therapy is used, patients should be given prophylaxis for opportunistic infections, such as Pneumocystis jirovecii (see prevention of Pneumocystis jirovecii pneumonia), and vaccines against common infections (eg, streptococcal pneumonia, influenza, COVID-19).

Endotracheal intubation can be technically difficult because of tracheal involvement and narrowing; also, intratracheal manipulation can lead to life-threatening postanesthetic deterioration by causing further glottic or subglottic inflammation. Thus, endotracheal intubation should be avoided whenever possible (eg, instead using local and regional anesthesia). When endotracheal intubation is unavoidable, preparations should be made for emergency cricothyrotomy.

More extensive tracheobronchial collapse may require tracheal reconstruction. Eye disease may sometimes be recalcitrant to treatment, especially when involving the sclera, and has a poor prognosis. Patients on long-term corticosteroid therapy should receive osteoporosis prophylaxis.