Elsevier

Joint Bone Spine

Volume 81, Issue 2, March 2014, Pages 118-124
Joint Bone Spine

Review
Relapsing polychondritis

https://doi.org/10.1016/j.jbspin.2014.01.001Get rights and content

Abstract

Relapsing polychondritis (RP) is a rare disease in which recurrent bouts of inflammation, in some cases followed by destruction, affect the cartilage of the ears, nose, larynx, and tracheobronchial tree. At presentation, however, arthritis is the most common manifestation and more than half the patients have no evidence of chondritis. The subsequent development of chondritis provides the correct diagnosis in patients who present with polyarthritis, ocular inflammation, or skin or audiovestibular manifestations of unknown origin. A concomitant autoimmune disease is present in one-third of patients with RP. The pathogenesis of RP involves an autoimmune response to as yet unidentified cartilage antigens followed by cartilage matrix destruction by proteolytic enzymes. The diagnosis rests on clinical grounds and can benefit from use of Michet's criteria. Anti-collagen type II and anti-matrilin-1 antibodies are neither sensitive nor specific and consequently cannot be used for diagnostic purposes. In addition to the physical evaluation and laboratory tests, useful investigations include dynamic expiratory computed tomography, magnetic resonance imaging, Doppler echocardiography, and lung function tests. Bronchoscopy has been suggested as a helpful investigation but can worsen the respiratory dysfunction. The treatment of RP is not standardized. The drug regimen should be tailored to each individual patient based on disease activity and severity. Glucocorticoid therapy is the cornerstone of the treatment of RP and is used chronically in most patients. Immunosuppressive agents are given to patients with severe respiratory or vascular involvement and to those with steroid-resistant or steroid-dependent disease. Methotrexate is often effective. Cyclophosphamide is used in severe forms.

Introduction

Relapsing polychondritis (RP) is a rare connective tissue disease in which recurrent bouts of inflammation, followed in some cases by degeneration and deformation, involve the cartilage of the ears, nose, larynx, and tracheobronchial tree [1], [2], [3], [4], [5], [6]. RP is a systemic disease, as shown by the frequent presence of arthritis, ocular inflammation, audiovestibular involvement, skin lesions, heart valve incompetence, and vasculitis. This article reviews the current knowledge about RP with special emphasis on the most recent data.

Section snippets

Method

We searched Medline using the following indexing terms: relapsing polychondritis, chondritis, cartilage, associated autoimmune disease, arthritis, respiratory tract, imaging, computed tomography, MRI, PET scan, pathogenesis, and treatment. Reference lists of retrieved publications were searched manually for additional articles.

Epidemiology

RP chiefly affects middle-aged adults, with a slight female predominance. Cases have been reported in the very young and very elderly [7]. All ethnic groups are affected. In the US, the estimated annual incidence of RP is 3.5/106 population [3] and the prevalence among Department of Defense beneficiaries is 4.5/106 [6].

Presentation

The presenting manifestations are highly variable. Joint symptoms often inaugurate the disease, and chondritis is absent initially in nearly half the cases, resulting in diagnostic delays of several months or years. The development of chondritis provides the correct diagnosis in patients evaluated initially for joint, ocular, cutaneous, or audiovestibular abnormalities that were either misinterpreted or unexplained. In patients with chondritis at presentation, the pinna is the most common site

Investigations

Laboratory evidence of inflammation is the rule during disease flares but when absent does not rule out RP. Known antibodies against certain cartilage components (collagen type II and matrilin-1) are neither sensitive nor specific and therefore cannot be used to diagnose RP. Blood cell counts may indicate myelodysplastic syndrome, usually refractory anemia with or without excess of blasts, which is seen in 5% to 10% of cases, chiefly early in the disease in males older than 60 years of age [2],

Diagnosis

The diagnosis of RP rests on clinical grounds and is frequently delayed.

Histological studies are not specific [4] and are rarely performed in everyday practice. However, histology may be helpful in early or atypical forms of RP. Examination of cartilage biopsies shows a perichondral infiltrate of lymphocytes and plasma cells with loss of basophilic staining of the cartilage matrix indicating loss of proteoglycans. The cartilage is gradually replaced by fibrous tissue. These abnormalities

Pathophysiology

An accumulating body of evidence points to an autoimmune response against certain cartilage antigens, which have not yet been identified, with subsequent cartilage matrix destruction by proteases including proteases released by chondrocytes undergoing apoptosis [4], [16], [17], [18].

Several lines of evidence support a pathogenic role for the humoral and cellular immune systems [4]:

  • 1.

    about 30% of patients with RP also have another autoimmune disease (Table S1);

  • 2.

    the damaged cartilage is infiltrated

Disease course

In most patients, RP is a chronic progressive disease characterized by a succession of flare-ups of variable frequency and severity. A burden of pain and functional impairment develops over time and may be compounded by iatrogenic complications. Remissions of variable duration may occur. Pregnancy has no effect on the activity of RP, and there are no neonatal manifestations [4], [38].

The Relapsing Polychondritis Disease Activity Index (RPDAI) is a recently developed preliminary score for

Prognosis

Improvements in the outcomes of patients with RP have been achieved in recent years, probably because better knowledge of the disease allows the diagnosis of mild forms and the development of better treatment strategies. Survival rates have increased from 70% after 5 years [1], [2], to 94% after 8 years [4] and even 91% after 10 years in a recent large single-center study [40]. RP-related causes of death include specific organ involvements (blood vessels and airways); concomitant myelodysplastic

Treatment

No controlled trials are available on which to base treatment decisions in RP. The treatment regimen is tailored empirically to each individual patient, based on clinical activity and severity [6], [8].

Antiinflammatory drugs, colchicine, or dapsone can be tried in mild forms, but their effectiveness is limited [2], [4]. Low-dose glucocorticoid therapy is often required.

Disclosure of interest

The authors declare that they have no conflicts of interest concerning this article.

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