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Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)

Kirresh, A; Everitt, A; Kon, OM; DasGupta, R; Pickering, MC; Lachmann, HJ; (2016) Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS). Practical Neurology , 16 (4) pp. 304-307. 10.1136/practneurol-2015-001342. Green open access

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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.

Type: Article
Title: Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/practneurol-2015-001342
Publisher version: http://dx.doi.org/10.1136/practneurol-2015-001342
Language: English
Additional information: Copyright © The authors 2016. Published by the BMJ Publishing Group Ltd. All rights reserved. This article has been accepted for publication in Practical Neurology following peer review. The definitive copyedited, typeset version [Kirresh, A; Everitt, A; Kon, OM; DasGupta, R; Pickering, MC; Lachmann, HJ; (2016) Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS). Practical Neurology , 16 (4) pp. 304-307. 10.1136/practneurol-2015-001342] is available online at: http://dx.doi.org/10.1136/practneurol-2015-001342
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: https://discovery.ucl.ac.uk/id/eprint/1483465
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