Relapsing Polychondritis

Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent episodes of inflammation of the auricular, nasal, and tracheal cartilage and a broad spectrum of systemic manifestations. The diagnosis of RP is based on the presence of typical chondritis, which may be lacking in up to 40% of cases at disease onset. Three main clinical phenotypes of RP have been described, each characterized by specific manifestations and the need for specific therapeutic management and follow-up. Screening for UBA1 mutations in the VEXAS syndrome (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) is essential in male patients over 50 years of age with macrocytic anemia, especially in the presence of dermatological, pulmonary, or thromboembolic manifestations. A thorough initial assessment is important to exclude the main differential diagnoses of RP (such as ANCA-associated vasculitis) and to search for another autoimmune or inflammatory disease, which is associated with RP in 20–30% of cases. Screening for tracheobronchial involvement is key, as respiratory manifestations are responsible for most of the morbidity and mortality of the disease. The therapeutic management of RP is not formally codified, and depends on the extent and severity of the disease.