Elsevier

Autoimmunity Reviews

Volume 9, Issue 8, June 2010, Pages 540-546
Autoimmunity Reviews

Review
Relapsing polychondritis: An autoimmune disease with many faces

https://doi.org/10.1016/j.autrev.2010.02.016Get rights and content

Abstract

Relapsing polychondritis (RPC) is a rare immune mediated disease which is associated with inflammation in cartilaginous tissue throughout the body. Especially the cartilaginous structures of ear, nose, joints and respiratory tract are affected. In around 30% of the cases an association with other diseases especially systemic vasculitis or myelodysplatic syndrome can be detected.

The relative rarity of RPC has not permitted clinical trials to determine the efficacy and safety of therapy strategies. Often the medication in current use is largely empiric and based on case reports. Therefore different immunosuppressants such as cyclophosphamide, azathioprine, cyclosporine, mycophenolate mofetil and also new approaches like tumor necrosis factor alpha blockers (TNF-alpha antagonists) have been used for the treatment of severe manifestations of RPC with varying degrees of efficacy.

This review gives a close look to clinical manifestation, diagnosis and also therapy options of RPC.

Introduction

Relapsing polychondritis (RPC) is a rare immune mediated disease of unknown aetiology which is associated with inflammation in cartilaginous, especially hyaline cartilage, tissue throughout the body. Most prominent manifestation is the inflammation of hyaline cartilage of the ear [1]. Around 30% of these cases are associated with other diseases especially systemic vasculitis or myelodysplastic syndrome.

The epidemiology of RPC remains unknown and the incidence is estimated to be 3 per million population with an onset around 40–60 years [2].

The systemic occurrence and often aggressive course of RPC necessitate an immunosuppressant therapy. Glucocorticosteroids, cyclophosphamide or anti-tumor necrosis factor alpha blockers (TNF-alpha antagonists) are used for the treatment of RPC with varying efficacy.

This review points out the clinical manifestation, pathology and therapy of the rare disease of RPC.

Section snippets

Epidemiology and genetic association

The epidemiology of RPC in detail still remains unknown. RPC appears among all individuals of all races and age groups without gender domination [3]. Onset seems most likely between the ages of 40–60, but there are some reports that RPC can occur in childhood [2]. As far as it is still known RPC is not a family disease, although examinations indicate a possible genetic contribution. Gimovsky and Nishiyama [4] reported the only case suggesting the possibility of placental transmission.

Genetic

Pathogenesis

Hypothetically the pathogenesis of RPC begins with an insult that induces the exposure of connective tissue or cell membrane epitopes, which can lead to an inflammatory and genetically conditioned immune response [9].

This insult can be caused by nutrient vasculature damage, trauma, toxic, chemical or infectious agents and also antigenic mimicry between an infectious agent and a given connective tissue antigen [10].

Potentially inflammatory cell exudates, which are responsible for tissue injury,

Clinical manifestations

Clinical manifestation of RPC varies in severity and duration. Auricular involvement is the most common feature, and also all other organs with (hyaline) cartilage structures could be involved including for example the costal cartilage, eyes, airways and many more as described below [1] (Table 1).

Diagnosis

Diagnosis of RPC is a combination of clinical findings, supportive laboratory parameters, imaging, and biopsy of involved cartilaginous tissues.

There were some trials to define criteria for RPC. Established diagnostic criteria are the original so called McAdam's criteria that require the presence of three or more of the following clinical features [1].

Bilateral auricular chondritis; nonerosive, seronegative inflammatory polyarthritis; nasal chondritis; ocular inflammation; respiratory tract

Treatment of relapsing polychondritis

The relative rarity of RPC has not permitted clinical trials to determine the efficacy and safety of different therapies. Decisions about therapy of RPC in current use are largely empiric and based on case reports but also on pathophysiological considerations.

The type of medical therapy given varies with the clinical estimate of disease activity and severity.

Conclusion

RPC is a challenging disease because the symptoms are often disguised and many differential diagnoses are possible. So it needs interdisciplinary affords to diagnose and treat RPC.

Varying possibilities in treatment from “classic” immunosuppressive agents to new approaches like the TNF-alpha antagonists and also the supportive management of accompanying problems should be considered.

Take-home messages

  • Relapsing polychondritis (RPC) is an inflammation of hyaline cartilage throughout the body that affects typical at first the ear cartilage.

  • Studies revealed genetic association of RPC to different HLA types, especially to HLA-DR4.

  • Approximately 30% with RPC present a coexisting form of systemic vasculitis, connective tissue disease, autoimmune or malignant disorders.

  • Pleomorphic perichondrial infiltrate with a variable proportion of polymorphonuclear cells, monocytes, macrophages with expressing

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