title: The most recent advances in pathophysiology and management of tumour necrosis factor receptor-associated periodic syndrome (TRAPS): personal experience and literature review.
abstract: Tumour necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterised by recurrent episodes of long-lasting fever and inflammation in different regions of the body, as musculo-skeletal system, skin, gastrointestinal tube, serosal membranes and eye. Inflammatory attacks usually start in the pediatric age with initial corticosteroid-responsiveness. Most reported cases of TRAPS involve patients of European ancestry and diagnosis can be formulated by the combination of genetic analysis and a compatible phenotype. Its prognosis is strictly dependent on the appearance of amyloidosis, secondary to uncontrolled relapsing inflammation. Thanks to a better understanding of its pathogenesis, the disease is now managed with anti-interleukin (IL)-1 antagonists, rather than corticosteroids or tumour necrosis factor (TNF) inhibitors. The aim of this review is to describe the current understanding and advances of TRAPS genetic basis, pathogenesis and management options by integrating the most recent data in the medical literature.
authors.affiliation: Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy. flora.magnotti@gmail.com.
authors.forename: Flora
authors.initials: F
authors.lastname: Magnotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Rolando
authors.initials: R
authors.lastname: Cimaz
authors.forename: Isabella
authors.initials: I
authors.lastname: Muscari
authors.forename: Atila
authors.initials: A
authors.lastname: Granados Afonso de Faria
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D005334:Fever; D020022:Genetic Predisposition to Disease; D056660:Hereditary Autoinflammatory Diseases / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics; D012307:Risk Factors
chemical_list: D007166:Immunosuppressive Agents; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human