title: Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.
abstract: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of the syndrome is variable and the clinical scenery is characterized by recurrent episodes of high-grade fever that typically lasts 1-3 weeks, associated with migrating myalgia, pseudocellulitis, diffuse abdominal pain, appendicitis-like findings, ocular inflammatory signs, and risk of long-term amyloidosis. Fever episodes are responsive to high-dose corticosteroids, but different classes of drugs have been reported to be ineffective. The use of etanercept is unable to control systemic inflammation, while interleukin-1 blockade has been shown as effective in the control of disease activity in many patients reported so far.
authors.affiliation: Institute of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lopalco
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Caterina
authors.initials: C
authors.lastname: De Clemente
authors.forename: Francesco
authors.initials: F
authors.lastname: Caso
authors.forename: Giacomo
authors.initials: G
authors.lastname: Emmi
authors.forename: Luisa
authors.initials: L
authors.lastname: Costa
authors.forename: Elena
authors.initials: E
authors.lastname: Silvestri
authors.forename: Laura
authors.initials: L
authors.lastname: Andreozzi
authors.forename: Florenzo
authors.initials: F
authors.lastname: Iannone
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D017668:Age of Onset; D005334:Fever; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D009154:Mutation; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics
chemical_list: D000305:Adrenal Cortex Hormones; D047888:Receptors, Tumor Necrosis Factor, Type I