Relapsing polychondritis and the challenge of diagnosis

an experience report

Abstract

Relapsing polychondritis (RP) is a rare and chronic inflammatory disease characterized by recurrent inflammation of cartilage, primarily affecting the joints, ears, and respiratory airways. Diagnosis is challenging as its symptoms can be confused with other autoimmune conditions. The clinical presentation is variable, including joint pain, hearing loss, skin rashes, and respiratory difficulties. Treatment for RP involves the use of immunosuppressive medications such as corticosteroids, and in more severe cases, methotrexate and cyclophosphamide. Biological therapies have also been successfully employed. This case report discusses a patient with a previous diagnosis of severe refractory asthma, who, after further investigation, was diagnosed with relapsing polychondritis. The patient presented persistent symptoms, such as cough, respiratory difficulty, and nasal changes, which led to the change in diagnosis. Treatment with pulse therapy and immunosuppressive medications was initiated, resulting in clinical improvement. The report highlights the importance of early diagnosis, multidisciplinary follow-up, and personalized treatment, emphasizing the challenges in managing the disease, the need for rigorous monitoring, and the relevance of patient education for treatment adherence and quality of life improvement.