title: Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.
abstract: OBJECTIVE
  Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS.
  
  
  METHODS
  Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology.
  
  
  RESULTS
  Eighteen cases of CAPS were identified (8 NOMID; 8 MWS, 2 FCAS); 12 in children <18 years of age. The estimated population prevalence of CAPS was 1 per million persons. Diagnostic delay was frequent, particularly in those with milder phenotypes (median diagnostic delay in MWS/FCAS 20.6 years compared with NOMID 2.1 years; P = 0.04). Common presenting features included urticaria (100%), periodic fever (78%), arthralgia (72%) and sensorineural hearing loss (61%). Almost all (90%) MWS patients had a family member similarly affected compared with none in the NOMID group (P = 0.004). A significant proportion of patients on anti-interleukin (IL)-1 therapy (n = 13) no longer had systemic inflammation. Only 50% with sensorineural hearing loss had hearing restored on anti-IL-1 therapy.
  
  
  CONCLUSIONS
  Although CAPS are rare, patients often endured prolonged periods of systemic inflammation. This is despite almost all MWS patients having family members with similar symptoms and children with NOMID presenting with chronic infantile urticaria associated with multi-system inflammation. Hearing loss in NOMID/MWS was frequent, and reversible in only 50% of cases.
authors.affiliation: Department of Allergy and Immunology, Children's Hospital at Westmead, Sydney, New South Wales, Australia. sam.mehr@health.nsw.gov.au.
authors.forename: Sam
authors.initials: S
authors.lastname: Mehr
authors.affiliation: Department of Rheumatology, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: Roger
authors.initials: R
authors.lastname: Allen
authors.affiliation: University of Adelaide, Discipline of Paediatrics, Women's and Children's Hospital, Adelaide, South Australia, Australia.
authors.forename: Christina
authors.initials: C
authors.lastname: Boros
authors.affiliation: Queensland Paediatric Rheumatology Services, Wesley Hospital, Brisbane, Queensland, Australia.
authors.forename: Navid
authors.initials: N
authors.lastname: Adib
authors.affiliation: Department of Allergy and Immunology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.|School of Maternal and Child Health, The University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: Alyson
authors.initials: A
authors.lastname: Kakakios
authors.affiliation: School of Maternal and Child Health, The University of New South Wales, Sydney, New South Wales, Australia.|Section of Paediatrics, Imperial College London, London, United Kingdom.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Turner
authors.affiliation: Department of Dermatology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
authors.forename: Maureen
authors.initials: M
authors.lastname: Rogers
authors.affiliation: Australian Paediatric Surveillance Unit, Kids Research Institute, Sydney, New South Wales, Australia.|Discipline of Paediatrics and Child Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Zurynski
authors.affiliation: School of Maternal and Child Health, The University of New South Wales, Sydney, New South Wales, Australia.|Discipline of Paediatrics and Child Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.|Department of Rheumatology, The Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
authors.forename: Davinder
authors.initials: D
authors.lastname: Singh-Grewal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D057210:Delayed Diagnosis / Q000706:statistics & numerical data; D005260:Female; D006306:Health Surveys; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D062486:Public Health Surveillance; D055815:Young Adult
keywords: CAPS; cryopyrin; epidemiology