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Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

Philip N Hawkins1, Helen J Lachmann, Ebun Aganna

  • 1Royal Free and University College Medical School, Royal Free Hospital, London, UK. p.n.hawkins@rfc.ucl.ac.uk

Arthritis and Rheumatism
|February 12, 2004
PubMed
Abstract

Insights

Interleukin-1 (IL-1) blockade with anakinra effectively treated Muckle-Wells syndrome (MWS) in a family with NALP3 mutations. This highlights IL-1beta

Area of Science:

  • Genetics and Molecular Biology
  • Immunology and Inflammation
  • Rheumatology and Autoinflammatory Diseases

Background:

  • Mutations in the NALP3 gene cause autoinflammatory syndromes: Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID/CINCA).
  • NALP3 is implicated in interleukin-1beta (IL-1beta) processing, suggesting IL-1 blockade as a potential therapeutic strategy.

Purpose of the Study:

  • To investigate the therapeutic efficacy of IL-1 blockade in patients with Muckle-Wells syndrome (MWS).
  • To evaluate the response of MWS associated with a specific NALP3 variant (V200M) to anakinra treatment.

Main Methods:

  • Clinical review of three family members with MWS and the NALP3 V200M variant.
  • Treatment evaluation using recombinant human IL-1 receptor antagonist anakinra.
  • Symptom tracking via diaries and fortnightly clinical/laboratory assessments, including serum amyloid A protein.

Main Results:

  • All subjects presented with characteristic MWS symptoms (fever, rash, arthralgia, deafness) and acute-phase response.
  • Additional features, including cold exacerbation (FCAS-like) and neurological manifestations (NOMID-like), were observed.
  • Anakinra treatment led to rapid and complete resolution of clinical and serologic inflammatory disease evidence.

Conclusions:

  • The significant response to anakinra in MWS confirms a critical role for IL-1beta in NALP3-associated autoinflammatory disease pathogenesis.
  • IL-1 inhibition is a promising therapeutic approach for MWS, NOMID/CINCA, and FCAS.
  • Clinical presentations of NALP3-associated syndromes may exhibit greater overlap than previously recognized.

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