, Volume 37, Issue 2, pp 396–401 | Cite as

Muckle–Wells Cryopyrinopathy: Complex Phenotyping and Response to Therapy in a New Multiplex Kindred

  • Alexander P. Headley
  • Frank Cordingley
  • Phillip N. Hawkins
  • D. Sean Riminton


Muckle–Wells syndrome (MWS) is a member of the cryopyrin-associated periodic syndrome family of auto-inflammatory diseases, originally described as a triad of urticaria, sensorineural deafness and amyloidosis. IL-1 blockade is a proven therapy for MWS. The clinical, laboratory and genotypic characteristics of a novel kindred of five individuals with Muckle–Wells syndrome are described. Response to IL-1 blockade therapy in the proband was evaluated. All five affected family members experienced symptoms of multi-organ inflammation. Lead time between symptom onset and diagnosis was approximately 30 years in the proband. Fever was not a universal feature in all affected family members. Anti-IL-1 therapy in the proband resulted in improvements in patient-reported symptoms, inflammatory markers, auditory acuity and reversal of her infertility. Muckle–Wells syndrome is a rare, multisystem, auto-inflammatory syndrome. Delay in diagnosis prevents effective treatment. We propose reversal of infertility to be among the potential benefits of IL-1 inhibition in this disease.


cryopyrin-associated periodic syndromes autoinflammatory syndromes infertility sensorineural deafness interleukin-1 



The authors wish to thank the Department of Molecular Medicine, Concord Hospital, Australia for their assistance in preparing the DNA sample. We also wish to thank the National Amyloidosis Centre, University College London Medical School, London, United Kingdom for their help in molecular diagnosis and Dr Sam Mehr at the Children’s Hospital, Westmead, Australia for his assistance.

Financial Support

None declared


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Alexander P. Headley
    • 1
  • Frank Cordingley
    • 2
  • Phillip N. Hawkins
    • 3
  • D. Sean Riminton
    • 1
  1. 1.Department of ImmunologyConcord HospitalConcordAustralia
  2. 2.Department of HaematologyFremantle HospitalFremantleAustralia
  3. 3.National Amyloidosis CentreUniversity College London Medical SchoolLondonUK

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