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.
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Kirresh et al Trapped without a diagnosis - Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) AAM.pdf Download (384kB) | Preview |
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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