title: Relapsing polychondritis: a chameleon among orphan diseases.
abstract: Relapsing polychondritis (RPC) is a rare disease with recurrent episodes of inflammation of cartilage tissue leading to fibrosis and organ damage. Despite unknown etiology, there is some evidence of a genetic predisposition. The clinical presentation is heterogeneous and an association with other autoimmune disorders such as rheumatoid arthritis or different forms of vasculitis has been described. All organ systems containing cartilage can be affected, such as ear, nose, joints, trachea, aorta, and coronary arteries. Given the broad spectrum of potential manifestations, a variety of medical specialists may be involved in the management of RPC patients. As establishing the diagnosis of RPC may be difficult, an interdisciplinary approach may be preferable. Treatment options include glucocorticoids, dapsone, disease-modifying antirheumatic drugs, and biologics. Prognosis is as heterogeneous as the clinical picture, depending on the severity of organ damage. In this paper we give an overview of the current knowledge with regard to pathogenesis, clinical picture, diagnosis, and therapy of RPC.
authors.affiliation: Academic Research Unit, 2nd Department of Medicine, Kepler University Hospital Linz, Krankenhausstraße 9, 4020, Linz, Austria.
authors.forename: Sabine
authors.identifier: http://orcid.org/0000-0002-5243-0198
authors.initials: S
authors.lastname: Schumacher
authors.affiliation: Academic Research Unit, 2nd Department of Medicine, Kepler University Hospital Linz, Krankenhausstraße 9, 4020, Linz, Austria. herwigpi@yahoo.com.|Paracelsus Private Medical University Salzburg, Müllner Hauptstraße 48, 5020, Salzburg, Austria. herwigpi@yahoo.com.
authors.forename: Herwig
authors.initials: H
authors.lastname: Pieringer
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use; D001688:Biological Products / Q000627:therapeutic use; D003622:Dapsone / Q000627:therapeutic use; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D011081:Polychondritis, Relapsing / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
chemical_list: D018501:Antirheumatic Agents; D001688:Biological Products; D005938:Glucocorticoids; D003622:Dapsone
keywords: Cartilage; Ear; Inflammation; Nose; Polychondritis