Rigante Donato, Lopalco Giuseppe, Tarantino Giusyda, Compagnone Adele, Fastiggi Michele, Cantarini Luca
Institute of Pediatrics, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
Clin Rheumatol. 2015 Sep;34(9):1503-11. doi: 10.1007/s10067-015-2916-z. Epub 2015 Mar 13.
Paroxysmal crises of fever and systemic inflammation herald familial Mediterranean fever (FMF), considered as the archetype of all inherited systemic autoinflammatory diseases. Inflammatory bouts are characterized by short-term and self-limited abdominal, thoracic, and/or articular symptoms which subside spontaneously. Erysipelas-like findings, orchitis, and different patterns of myalgia may appear in a minority of patients. In recent years, many non-classical manifestations have been reported in the clinical context of FMF, such as vasculitides and thrombotic manifestations, neurologic and sensory organ abnormalities, gastrointestinal diseases, and even macrophage activation syndrome. As FMF left unrecognized and untreated is ominously complicated by the occurrence of AA-amyloidosis, it is highly desirable that diagnosis of this autoinflammatory disorder with its multiple clinical faces can be contemplated at whatever age and brought forward.
发热和全身炎症的阵发性危机预示着家族性地中海热（FMF），它被视为所有遗传性全身自身炎症性疾病的原型。炎症发作的特征是短期和自限性的腹部、胸部和/或关节症状，这些症状会自行消退。少数患者可能会出现丹毒样表现、睾丸炎和不同类型的肌痛。近年来，在FMF的临床背景下报告了许多非典型表现，如血管炎和血栓形成表现、神经和感觉器官异常、胃肠道疾病，甚至巨噬细胞活化综合征。由于未被识别和治疗的FMF会因AA淀粉样变性的发生而出现严重并发症，因此非常希望能够在任何年龄考虑并提前诊断这种具有多种临床症状的自身炎症性疾病。
