Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

Autor:	Kuemmerle-Deschner JB; Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany., Ozen S; Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Tyrrell PN; Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada., Kone-Paut I; Department of Pediatric Rheumatology, Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France., Goldbach-Mansky R; Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, Maryland, USA., Lachmann H; National Amyloidosis Centre, University College London Medical School, London, UK., Blank N; Haematologie, Onkologie und Rheumatologie, Universitaetsklinikum Heidelberg, Heidelberg, Germany., Hoffman HM; University of California at San Diego, San Diego, California, USA., Weissbarth-Riedel E; Kinderrheumatologische Ambulanz, Universitaetsklinikum Eppendorf, Hamburg, Germany., Hugle B; German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany., Kallinich T; Department of Rheumatology, Charité, University Medicine Berlin, Berlin, Germany., Gattorno M; UO Pediatria 2, G. Gaslini Institute, Genoa, Italy., Gul A; Istanbul University, Istanbul, Turkey., Ter Haar N; Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Oswald M; Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany., Dedeoglu F; Department of Rheumatology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Cantarini L; Rheumatology Unit, Policlinico Le Scotte, University of Sienna, Italy., Benseler SM; Rheumatology, Department of Paediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
Jazyk:	angličtina
Zdroj:	Annals of the rheumatic diseases [Ann Rheum Dis] 2017 Jun; Vol. 76 (6), pp. 942-947. Date of Electronic Publication: 2016 Oct 04.
DOI:	10.1136/annrheumdis-2016-209686
Abstrakt:	Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with NLRP3 gene mutations and increased interleukin-1 (IL-1) secretion. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage. The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using 1000Minds decision software. Resulting CAPS criteria were tested in large cohorts of CAPS cases and controls using correspondence analysis. Diagnostic models were explored using sensitivity analyses. The international team included 16 experts. Systematic literature and registry review identified 33 CAPS-typical items; the consensus conferences reduced these to 14. 1000Minds exercises ranked variables based on importance for the diagnosis. Correspondence analysis determined variables consistently associated with the diagnosis of CAPS using 284 cases and 837 controls. Seven variables were significantly associated with CAPS (p<0.001). The best diagnosis model included: Raised inflammatory markers (C-reactive protein/serum amyloid A) plus ≥two of six CAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities. Sensitivity was 81%, specificity 94%. It performed well for all CAPS subtypes and regardless of NLRP3 mutation. The novel approach integrated traditional methods of evidence synthesis with expert consensus, web-based decision tools and innovative statistical methods and may serve as model for other rare diseases. These criteria will enable a rapid diagnosis for children and adults with CAPS. Competing Interests: Competing interests: JBK-D performed clinical studies with Novartis and received speaking honoraria from Novartis and SOBI. (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)
Databáze:	MEDLINE
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