Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
J Autoimmun. 2014 Feb-Mar;48-49:53-9. doi: 10.1016/j.jaut.2014.01.026. Epub 2014 Jan 24.
Relapsing polychondritis is a rare and potentially fatal autoimmune disease of unknown etiology, characterized by inflammation and destruction of different cartilaginous structures, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart and skin, with high risk of misdiagnosis. The spectrum of clinical presentations is protean and may vary from intermittent episodes of painful and disfiguring auricular and nasal chondritis or polyarthritis to severe progressive multi-organ damage. A laryngotracheobronchial involvement appears in nearly half of patients and is complicated by local obstructions, which may be life-threatening. A highly medical specialized approach is required for diagnosis of relapsing polychondritis. This review comprehensively examines the literature related to the clinical sceneries of the disease and focuses on both diagnostic tools used in clinical studies and recent findings related to its etiopathogenesis.
复发性多软骨炎是一种罕见的、潜在致命的自身免疫性疾病,病因不明,其特征为耳、鼻、喉、气管、支气管、外周关节、眼、心脏和皮肤等不同软骨结构的炎症和破坏,误诊风险高。临床表现多样,可能从间歇性、疼痛和毁容性耳软骨炎和鼻软骨炎或多关节炎到严重的进行性多器官损伤不等。近一半的患者存在喉气管支气管受累,并伴有局部阻塞,这可能危及生命。诊断复发性多软骨炎需要高度专业化的医疗方法。本综述全面检查了与疾病临床特征相关的文献,并重点介绍了临床研究中使用的诊断工具以及与发病机制相关的最新发现。