title: Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
abstract: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant condition caused by mutations in the TNFRSF1A gene. It is characterised by recurrent episodes of myalgia, followed by prolonged fever, migratory rashes, headache, serositis, arthralgia, abdominal pain and periorbital oedema. We describe a 49-year-old man with a self-limiting episode of paraparesis who reported recurrent bouts of abdominal symptoms and headaches since childhood. He had a persistent inflammatory response with night sweats and weight loss. We diagnosed TRAPS 2 years after having identified a TNFRSF1A gene mutation. His symptoms and inflammatory response resolved dramatically with the interleukin-1 receptor antagonist anakinra.
authors.affiliation: Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
authors.forename: Ali
authors.initials: A
authors.lastname: Kirresh
authors.affiliation: Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
authors.forename: Alex
authors.initials: A
authors.lastname: Everitt
authors.affiliation: Department of Respiratory Medicine, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
authors.forename: Onn Min
authors.initials: OM
authors.lastname: Kon
authors.affiliation: Department of Urology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK.
authors.forename: Ranan
authors.initials: R
authors.lastname: DasGupta
authors.affiliation: Centre for Complement and Inflammation Research, Imperial College, London, UK.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Pickering
authors.affiliation: National Amyloidosis Centre, University College London, Royal Free Hospital, London, UK.
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Lachmann
mesh_terms: D005334:Fever / Q000209:etiology; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human
keywords: TRAPS; paraparesis; periodic fever syndromes