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Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)
  1. Ali Kirresh1,
  2. Alex Everitt1,
  3. Onn Min Kon2,
  4. Ranan DasGupta3,
  5. Matthew C Pickering4,
  6. Helen J Lachmann5
  1. 1Department of Neurology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK
  2. 2Department of Respiratory Medicine, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK
  3. 3Department of Urology, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK
  4. 4Centre for Complement and Inflammation Research, Imperial College, London, UK
  5. 5National Amyloidosis Centre, University College London, Royal Free Hospital, London, UK
  1. Correspondence to Dr Ali Kirresh, Department of Neurology, Imperial College NHS Trust, St Mary's Hospital, London W2 1NY, UK; ali.kirresh{at}doctors.org.uk

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.

  • TRAPS
  • paraparesis
  • periodic fever syndromes

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