see also: Case Example Subglottic Stenosis and Relapsing Polychondritis; Tracheotomy - Tracheostomy; Subglottic stenosis

Background

Relapsing polychondritis (RPC) is a rare autoimmune disease characterized by relapsing inflammation of hyaline elastic and fibrous cartilaginous tissues (Afridi 2017)

• Cardiovascular and respiratory complications result from involvement of the cartilage of the ears,nose, upper and lower airways, larynx, cardiovacular system and joints. 
• Average time from onset of symptoms to diagnosis is 3 years
• Incidence estimated between 3.5 and 4.5 cases per million people per years with equal gender distribution and average age of onset of 50 years old

Pathophysiology

​Patholophysiology remains unknown with hypothesis that autoimmune reaction initially targets cartilage and then subsequently affects non- cartilage tissue (Mathian 2016)

• Inflammatory infiltrates in affected tissues are a collection of lymphocytes (mostly CD4+ T cells), marcophages, neutrophis, and plasma cells.
• Cascade of degradative enzymes released into tissue
• Initial trigger reported from an initial damaging event to cartilage, which exposes immunogenic epitose of chondrocytes 
• Autoantibodies can be found in patients with RPC directed against cartilage and associated tissue in 30% with RPC - but not specific in that they are also found in rheumatoid arthritis and other autoimmune disorders

Clinical Presentation

Systemic involvement:

• During flares of the disease process fatigue and fever can be seen

Auricular involvement

• Most common feature (90% of cases) is acute swelling tenderness and redness of ear classically sparing the ear lobe (Kent 2004)
• May be associated external auditory canal obstruction
• In some cases may be chochler or vestibular involvement (SNHL and/or vertigo)

​Nasal Involvement

• May acutely identify pain at the base of nose with swelling and fullness of nasal bridge
• May be associated nasal obstruction, rhinorrhea, crusting or epistaxis.
• Nasal collapes inad saddle nose deformity seen in 29% according to Mathian 2016
• Septal perforation may occur

Ocular Involvement

• Episcleritis, scleritis or conjunctivitis can be seen in 20-60% (Mathian 2016)

Pulmonary Involvement - may involve cartilaginous structures extending from larynx to the bronchi

• Initial symptoms of dry cough, hoarseness, dysphonia, aphonia, stridor, choking or anterior neck pain
• Tracheotomy may be required in the face of laryngotracheal stenosis
• A significant cause of mortality in patients with RPC can resuls from tracheobronchomalacia as well as scarring with irreversisble expiratory collapse of the tracheobronchial tree
• Work-up includes PFT's and chest CT imaging (Tillie-Leblond I,  1998)

 Cardiovascular Involvement

• Cardiovascular involvement is a second most common cause of death in relapsing polychondritis primarily from associated vasculitis and valvular heart disease
• Aortic valvular disease is most common although the vasculitis can affect any vessel
• There is increased risk for a descending thoracic aortic aneurysm (repeated monitoring with echocardiography is warranted)

Musculoskeletal involvement

• Polyarthralgias affecting both small and large joints may occur
• Characteristically arthritis is asymmetric and intermittent, flareups occur and often spontaneously resolved without treatment

Other

Skin / CNS / Renal involvement

Diagnosis is dependent upon clinical features, radiographic evaluation, occasional biopsy of cartilage, and generally nonspecific laboratory blood testing

Treatment

• Tailored to severity of disease and extent of involvement 
• Rheumatologist - directed management may include NSAIDs, colchicine or dapsone. Glucocorticoids are commonly used with consideration for use of immunomodulating therapy including cycophosphamide, methotrexate, azathiroprine and cyclosporin.

References

Afridi F and Frosh S: Silent tracheobronchial chondritis in a patient with a delayed diagnosis of relapsing polychondritis. BMJ Case Rep. 2017 July 24

Mathian A, Miyara M, cohen-Aubart F, et al. Relapsing Polychondritis: A 2016 update on clinical features, diagnostic tools, treatment and biological drug use. Best Pract Res Clin Rheumatol 2016;30:316-33

Kent PD, Michet CJ, Luthra HS. Relapsing polychondritis Curr Opin Rheumatol 2004;16:56-61relapsing polychondritis

​Tillie-Leblond I, Wallaert B, Leblond D, et al Respiratory involvement in relapsing polychondritis, clinical, functional, endoscopic, and radiographic evaluations.  Medicine 1998; 77: 168-76

Arnaud L, Marthian A, Haroche J, et al: Pathogenesis of relapsing polychondritis a 2013 update autoimmune review 2014; 13: 90- 5

Michet Jr CJ, McKenna Ch, Luthra HS, O'Fallon WmMRelapsing polychondritis.  Survival and predicted role of early disease manifestations.  Annals of internal medicine 1986; 104 (1): 74-8