title: Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
abstract: 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.
authors.affiliation: Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Cattalini
authors.affiliation: Pediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Soliani
authors.affiliation: Interdisciplinary Department of Medicine, Rheumatology Unit, Bari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lopalco
authors.affiliation: Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.affiliation: Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy. cantariniluca@hotmail.com.|Rheumatology Unit, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100, Siena, Italy. cantariniluca@hotmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000175:diagnosis / Q000503:physiopathology; D001327:Autoimmune Diseases / Q000150:complications* / Q000503:physiopathology*; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000503:physiopathology; D004502:Education, Medical, Continuing / Q000379:methods*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000503:physiopathology; D005334:Fever / Q000175:diagnosis / Q000503:physiopathology; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007388:Internal Medicine / Q000379:methods / Q000592:standards; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis / Q000503:physiopathology
keywords: Anakinra; Autoinflammatory disorders; Canakinumab; Hereditary periodic fever syndromes