Article Text

Download PDFPDF
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism
  1. M Rynne1,
  2. C Maclean1,
  3. A Bybee2,
  4. M F McDermott1,
  5. P Emery1
  1. 1Academic Unit of Musculoskeletal Disease, Department of Rheumatology, Leeds General Infirmary, Great George Street, Leeds LS1 3EX, UK
  2. 2National Amyloidosis Centre, 3rd Floor Lower, Royal Free and University College Medical School–Hampstead Campus, Rowland Hill Street, London NW3 2PF, UK
  1. Correspondence to:
    Professor P Emery


Background: Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused by mutations affecting the CIAS1/NALP3 gene on chromosome 1q44. The proinflammatory cytokine, interleukin 1β, is believed to have a fundamental role in their pathogenesis.

Case report: The case is described of a 59 year old white woman who presented with increasingly severe MWS-type features over a 15 year period. The response to interleukin 1β inhibition with anakinra was dramatic, including a reduction in intracranial pressure with associated auditory improvement, as demonstrated by serial audiometry.

Conclusions: The confirmed improvement in hearing after initiation of interleukin 1 receptor antagonism corroborates previous reports that specific blockade of this single cytokine reverses most of the symptoms of this group of CIAS1/NALP3 related autoinflammatory conditions, including the sensorineural deafness, which has not been previously reported.

  • CINCA, chronic, infantile, neurological, cutaneous, and articular (syndrome)
  • CSF, cerebrospinal fluid
  • FCAS, familial cold autoinflammatory syndrome IL, interleukin
  • MWS, Muckle-Wells syndrome, NOMID, neonatal onset multisystem inflammatory disease
  • Muckle-Wells syndrome
  • anakinra
  • sensorineural deafness
  • auditory improvement
  • autoinflammatory disease

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.