Dermatology

Relapsing Polychondritis

Relapsing polychondritis ICD-9 733.99

Are You Confident of the Diagnosis?

What you should be alert for in the history

Relapsing polychondritis is a chronic, relapsing, progressive disease characterized by inflammation of cartilage. The ears, nose, joints and tracheobronchial cartilages are most commonly involved. Structures rich in proteoglycan can also be affected (eye, heart, inner ear). Course tends to be that of relapsing and remitting disease with eventual irreversible damage to structures involved.

Patients often present with ear redness and pain as well as joint pains. Other clinical manifestations include sore throat and hoarse voice, wheezing, coughing, hearing loss, vertigo. Constitutional symptoms are often present (fever, fatigue, weight loss). Because of the variability in clinical presentation, diagnosis is often delayed up to 2 years.

Characteristic findings on physical examination

Physical examination is characterized by repeated episodes of cartilage inflammation, initially involving the ears and joints.

Almost all patients with relapsing polychondritis get bilateral ear involvement. The ear is tender, red, swollen and warm. Characteristically, the lobe is spared (Figure 1). Each episode of inflammation can last days to weeks. Repeated episodes of inflammation can result in permanent ear deformity (floppy ear).

Figure 1.

Erythema and edema of the cartilaginous portion of the ear. Earlobe spared.

Arthritis is the second most common finding and is migratory in nature with or without swelling. One or more joints can be involved, most commonly the metacarpalphalangeal, proximal interphalangeal and knee joints.

Nasal cartilage inflammation is characterized by acute pain, nasal discharge or bleeding with eventual formation of the characteristic saddle nose.

Laryngobronchial involvement occurs in about half of patients, and can result in airway obstruction or collapse if the trachea is affected.

Other systems affected are as follows: ocular (episcleritis, uveitis, conjunctivitis, keratitis), audiovestibular (vertigo, hearing loss), cardiovascular, neurologic (especially cranial nerve palsies), and renal (less frequent).

Expected results of diagnostic studies

Diagnosis of relapsing polychondritis is usually clinical. Three of the following six criteria are needed:

  • Bilateral chondritis of the ear

  • Nasal chondritis

  • Chondritis of the respiratory tract

  • Ocular inflammation

  • Audiovestibular damage

  • Seronegative non-erosive inflammatory arthritis

  • Diagnosis confirmation

Biopsy of inflamed cartilage will show perichondral inflammation (infiltrate is usually lymphocytic, but can be neutrophilic early). Cartilage appears pink and there is destruction of chondrocytes.

Chest radiograph, pulmonary function tests and CT can be helpful in evaluating the upper and lower airway.

Non-specific findings include: elevated erythrocyte sedimentation rate (during acute attacks), anemia/leukocytosis/eosinophilia on complete blood count, positive ANA and rheumatoid factor, false positive VDRL, elevated serum creatinine (if renal involvement).

Differential diagnosis varies depending on the structure involved:

  • Red and/or swollen ear: cellulitis of the ear (will not spare lobe); trauma, contact dermatitis, frost bite (history will distinguish); chondrodermatitis nodularis helicis (localized); leprosy (history, culture will distinguish)

  • Saddle nose: Wegener’s granulomatosus (antibodies to c-ANCA, no ear involvement), congenital syphilis, rhinoscleroma, NK lymphoma (pathology differs)

  • Reactive arthritis: will also have psoriasiform skin lesions, often HLA-B27 positive

Who is at Risk for Developing this Disease?

Relapsing polychondritis is a rare disease often diagnosed in the fifth decade, but onset in childhood has been reported (less than 5% of cases). No gender predilection exists, whites are more often affected.

What is the Cause of the Disease?

Etiology

Pathophysiology

Etiology is unknown, but the pathogenesis favors an immune reaction to type II collagen. Antibodies to type II collagen are noted in one-third of patients with active disease. Direct immunofluorescence of involved cartilage is often positive. Pediatric patients often have a family history of autoimmune disease.

Systemic Implications and Complications

Relapsing polychondritis follows a progressive and unpredictable course. Vasculitis is the most common associated condition. All vessel sizes can be affected, and these patients often have a worse prognosis.

Thirty Percent of patients have an additional autoimmune disease (systemic lupus erythematosus, Sjogren’s syndrome, rheumatoid arthritis and others).

Patients with features of both relapsing polychondritis and Behcet syndrome are classified as having MAGIC syndrome (mouth and genital ulcers with inflamed cartilage).

Hematologic malignancy and myelodysplasia are present in 5 of patients. Pediatric patients seem to stay on a normal growth curve. Disease related mortality is about 25%, most commonly from pneumonia (resulting from airway collapse).

Treatment Options

Treatment options are summarized in the Table I.

Table I.

Treatment Options
Disease Activity Treatment Options Administration
Mild DapsoneColchicineNSAIDS (naproxen or other NSAIDS) Dapsone 25-200mg dailyColchicine 0.6mg twice a dayNaproxen 250mg (or 500mg) twice a day
Moderate Systemic Corticosteroids Treatment of choice for acute flares. Dosing at 30-60mg daily, tapered based on disease activity.
Severe Systemic Corticosteroids, other medications (methotrexate, azathioprine, cyclosporine, cyclophosphamide)IV corticosteroids Dosing of corticosteroids as above. IV steroids if acute airway obstruction is present.

Optimal Therapeutic Approach for this Disease

Treatment options are not standardized because relapsing polychondritis is a rare condition. Most treatments have a high morbidity. Some patients only need treatment during flares. Others need maintenance therapy.

Surgical treatments may exacerbate inflammation, so risks and benefits need to be weighed if surgery is being considered. Surgical intervention is considered for cardiopulmonary involvement (tracheostomy, stenting of bronchial tree, cardiac valve replacement).

Systemic corticosteroids are first-line treatment for relapsing polychondritis. Steroids have been shown to decrease frequency and severity of attacks. Long-term treatment is limited by steroid side effect profile. If patients require maintenance therapy or are incompletely controlled with high doses of steroids alone, then another immunosuppressive medication may be added.

Reports suggest methotrexate may be a good initial alternative followed by azathioprine. Cyclophosphamide is preferred if scleritis is present. Severe cases with airway involvement may require IV steroids.

Patient Management

Patients often require low dose systemic steroids as maintenance therapy if their disease is not fully controlled between acute episodes. Patients should be followed regularly and monitored for side effects of long term systemic steroid or immune suppression therapy. Consider multi-disciplinary approach based on organ systems involved.

Unusual Clinical Scenarios to Consider in Patient Management

Patients with involvement of trachea can be difficult to intubate and may need special evaluation if intubation is required.

What is the Evidence?

Rapini, RP, Warner, NB. "Relapsing polychondritis". Clin Dermatol. vol. 24. 2006. pp. 482-5.

(An excellent review of the vast clinical manifestations and therapeutic options for relapsing polychondritis.)

Trentham, DE, Le, CH. "Relapsing polychondritis". Ann Int Med. vol. 129. 1998. pp. 114-122.

(The authors describe their personal experience with 36 patients in addition to 30 more gleaned from the literature. The presentation of patients with the condition may be highly ambiguous. Therapeutically, although prednisone is utilized most frequently, methotrexate may be valuable.)

Letko, E, Zafirakis, P, Baltatzis, S, Voudouri, A, Livir-Rallatos, C, Foster, CS. "Relapsing polychondritis: a clinical review". Semin Arthritis Rheum. vol. 31. 2002. pp. 384-395.

(A review of relapsing polychondritis emphasizing the fact that the condition may be a fatal disease, most often due to pulmonary infection, systemic vasculitis, airway collapse, and renal failure.)

Frances, C, El Rassi, R, Laporte, JL, Rybojad, M, Papo, T, Piette, JC. "Dermatologic manifestations of relapsing polychondritis". Medicine. vol. 80. 2001. pp. 173-179.

(An interesting review concluding that dermatologic manifestations seen in patients with relapsing polychondritis may resemble those observed in Behçhet's disease or inflammatory bowel disease (such as aphthous ulcers, sterile pustules, livedo reticularis), especially in those cases associated with myelodysplasia.)

Belot, A, Duquesne, A, Job-Deslandre, C, Costedoat-Chalumeau, N, Boudjemaa, S, Wechsler, B. "Pediatric-onset relapsing polychondritis: case series and systematic review". J Pediatr. vol. 156. 2010. pp. 484-9.

(Pediatric cases of relapsing polychondritis are reviewed (ten patients with an additional 37 from the literature). In chilidren, there is an association with familial disorders of autoimmunity. Inflammation of cartilage does not appear to impair growth in children with the disease.)
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