Objectives 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.
- autoinflammatory diseases
- recurrent fever
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NMTH and CE are joint first authors.
JF and MGare joint senior authors.
Handling editor Prof Josef S Smolen
Correction notice This article has been corrected since it published Online First. The author groups have been added and the last affiliation updated.
Contributors NMTH, CE, JF, MG: collection, analysis, interpretation of data. NMTH, CE: wrote manuscript. JF, MG: checked and revised manuscript. LC, RP, PB, IK-P, CM, MH, NI, SF, AI, FL, YU, MJ, IN, SN, EP-A, ANO, RC, GS, VS, MvG, AV, NR: provided data, checked and approved the manuscript.
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.
Competing interests None declared.
Patient and public involvement statement Patients were not involved in the research process of this study. Results of this study will be shared with patients via the Eurofever website.
Patient consent for publication Parental/guardian consent obtained.
Ethics approval Ethics approval was obtained from the G Gaslini Institute institutional review board.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data are available on reasonable request.