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

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

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 Overview of Vasculitis Vasculitis is inflammation of blood vessels, often with ischemia, necrosis, and organ inflammation. Vasculitis can affect any blood vessel—arteries, arterioles, veins, venules, or capillaries... read more (leukocytoclastic vasculitis or polyarteritis nodosa Polyarteritis Nodosa (PAN) Polyarteritis nodosa is a systemic necrotizing vasculitis that typically affects medium-sized muscular arteries and occasionally affects small muscular arteries, resulting in secondary tissue... read more ), myelodysplastic syndrome Myelodysplastic Syndrome (MDS) The myelodysplastic syndrome (MDS) is group of clonal hematopoietic stem cell disorders typified by peripheral cytopenia, dysplastic hematopoietic progenitors, a hypercellular or hypocellular... read more , or cancer is possible.

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

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 Diagnosis Granulomatosis with polyangiitis is characterized by necrotizing granulomatous inflammation, small- and medium-sized vessel vasculitis, and focal necrotizing glomerulonephritis, often with crescent... read more , 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.

Mild recurrent ear disease may respond to nonsteroidal anti-inflammatory drugs in anti-inflammatory doses, or oral dapsone (50 to 100 mg once a day). However, most patients are treated with oral prednisone 30 to 60 mg once a day, with tapering of the dose as soon as there is a clinical response. Some patients require chronic use. In such patients, oral methotrexate 15 to 20 mg once a week can reduce the requirement for corticosteroids. Very severe cases may require other immunosuppressants, such as cyclosporine, cyclophosphamide, anti-tumor necrosis factor drugs (eg, infliximab, etanercept), or azathioprine. None of these therapies has been tested in controlled trials or has been shown to decrease mortality. If tracheal narrowing causes stridor, a tracheostomy or stent may be needed.

If combination immunosuppressive therapy is used, patients should be given prophylaxis for opportunistic infections, such as Pneumocystis jirovecii (see prevention of Pneumocystis jirovecii pneumonia Prevention Pneumocystis jirovecii is a common cause of pneumonia in immunosuppressed patients, especially in those infected with human immunodeficiency virus (HIV) and in those receiving systemic... read more ), and vaccines against common infections (eg, streptococcal pneumonia Overview of Pneumonia Pneumonia is acute inflammation of the lungs caused by infection. Initial diagnosis is usually based on chest x-ray and clinical findings. Causes, symptoms, treatment, preventive measures, and... read more , influenza Influenza Influenza is a viral respiratory infection causing fever, coryza, cough, headache, and malaise. Mortality is possible during seasonal epidemics, particularly among high-risk patients (eg, those... read more , COVID-19 COVID-19 Vaccine COVID-19 vaccines provide protection against COVID-19, the disease caused by infection with the SARS-CoV-2 virus. Vaccination is the most effective strategy to prevent severe illness and death... read more ).

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 Prevention Osteoporosis is a progressive metabolic bone disease that decreases bone mineral density (bone mass per unit volume), with deterioration of bone structure. Skeletal weakness leads to fractures... read more .