RT Journal Article
SR Electronic
T1 Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 304
OP 307
DO 10.1136/practneurol-2015-001342
VO 16
IS 4
A1 Ali Kirresh
A1 Alex Everitt
A1 Onn Min Kon
A1 Ranan DasGupta
A1 Matthew C Pickering
A1 Helen J Lachmann
YR 2016
UL http://pn.bmj.com/content/16/4/304.abstract
AB 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.