Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

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dc.contributor.authorTer Haar, Nienke M.
dc.contributor.authorEijkelboom, Charlotte
dc.contributor.authorCantarini, Luca
dc.contributor.authorPapa, Riccardo
dc.contributor.authorBrogan, Paul A.
dc.contributor.authorKone-Paut, Isabelle
dc.contributor.authorModesto, Consuelo
dc.contributor.authorHofer, Michael
dc.contributor.authorIagaru, Nicolae
dc.contributor.authorFingerhutová, Sárka
dc.contributor.authorInsalaco, Antonella
dc.contributor.authorLicciardi, Francesco
dc.contributor.authorUziel, Yosef
dc.contributor.authorJelusic, Marija
dc.contributor.authorNikishina, Irina
dc.contributor.authorNielsen, Susan
dc.contributor.authorPapadopoulou-Alataki, Efimia
dc.contributor.authorOlivieri, Alma Nunzia
dc.contributor.authorCimaz, Rolando
dc.contributor.authorSusic, Gordana
dc.contributor.authorStanevica, Valda
dc.contributor.authorVan Gijn, Marielle
dc.contributor.authorVitale, Antonio
dc.contributor.authorRuperto, Nicolino
dc.contributor.authorFrenkel, Joost
dc.contributor.authorGattorno, Marco
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2021-04-14T10:05:01Z
dc.date.available2021-04-14T10:05:01Z
dc.date.issued2019
dc.descriptionFunding Information: Funding The project has been supported by the executive agency For Health and Consumers (eaHC, Project no. 2007332) and e-rare-3 project (insaiD, grant 003037603). novartis and sOBi provided unrestricted grants for the eurofever registry. Funding Information: The project has been supported by the Executive Agency For Health and Consumers (EAHC, Project No. 2007332) and E-rare-3 project (INSAID, grant 003037603). Novartis and SOBI provided unrestricted grants for the Eurofever registry. Publisher Copyright: © © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
dc.description.abstractObjectives To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs). Methods Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases. Results This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%). Conclusion This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.en
dc.description.statusPeer reviewed
dc.format.extent7
dc.format.extent773309
dc.identifier.citationTer Haar, N M, Eijkelboom, C, Cantarini, L, Papa, R, Brogan, P A, Kone-Paut, I, Modesto, C, Hofer, M, Iagaru, N, Fingerhutová, S, Insalaco, A, Licciardi, F, Uziel, Y, Jelusic, M, Nikishina, I, Nielsen, S, Papadopoulou-Alataki, E, Olivieri, A N, Cimaz, R, Susic, G, Stanevica, V, Van Gijn, M, Vitale, A, Ruperto, N, Frenkel, J & Gattorno, M 2019, 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases', Annals of the Rheumatic Diseases, vol. 78, no. 10, pp. 1405-1411. https://doi.org/10.1136/annrheumdis-2018-214472
dc.identifier.doi10.1136/annrheumdis-2018-214472
dc.identifier.issn0003-4967
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/3799
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85068611687&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofAnnals of the Rheumatic Diseases
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectautoinflammatory diseases
dc.subjecteurofever
dc.subjectinflammation
dc.subjectrecurrent fever
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectImmunology and Allergy
dc.subjectRheumatology
dc.subjectImmunology
dc.subjectGeneral Biochemistry,Genetics and Molecular Biology
dc.titleClinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseasesen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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