title: The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature.
abstract: Hereditary periodic fever syndromes (HPFSs) are a group of inherited disorders of the innate immune system caused by mutations of genes involved in the regulation or activation of the inflammatory response, which belong to the category of autoinflammatory disorders. Most HPFs typically have an onset in pediatric age, while a limited number of patients experience disease onset during adulthood. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that genetic testing is often inconclusive. Recently, we have identified a set of variables related to the probability of detecting gene mutations in MEFV, responsible for familial Mediterranean fever, and TNFRSF1A, responsible for tumor necrosis factor receptor-associated periodic syndrome. In addition, we have proposed a diagnostic score for identifying those patients at high risk of carrying mutations in these genes. However, before the score can be recommended for application, further evaluation by means of longitudinal studies on different ethnicities and different populations deriving from other geographical areas is needed in order to definitively verify both its sensitivity and its specificity. The present manuscript offers our suggestions on how to establish a differential diagnosis for adult-onset HPFs, as well as a review of the literature, and we also provide a score revision available online.
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Muscari
authors.forename: Francesca
authors.initials: F
authors.lastname: Iacoponi
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Gabriele
authors.initials: G
authors.lastname: Simonini
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Brizi
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Rolando
authors.initials: R
authors.lastname: Cimaz
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
mesh_terms: D000328:Adult; D017668:Age of Onset; D003937:Diagnosis, Differential; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D006801:Humans; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human