Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists%26apos; lens

作者：Cattalini Marco; Soliani Martina; Lopalco Giuseppe; Rigante Donato; Cantarini Luca

来源：Internal and Emergency Medicine, 2016, 11(6): 781-791.

DOI：10.1007/s11739-016-1466-y

• Autoinflammatory disorders
• Hereditary periodic fever syndromes
• Anakinra
• Canakinumab

Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis. This review gives an overview on the four main AIDs, namely familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrinopathies, and mevalonate kinase deficiency, focusing on their clinical phenotype in adults and differential diagnosis, suggesting a diagnostic algorithm, and reviewing the available treatments.

• 出版日期2016-9