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Ann Rheum Dis. 2019 Jul 5. pii: annrheumdis-2018-214472. doi: 10.1136/annrheumdis-2018-214472. [Epub ahead of print]

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

Author information

1
Laboratory of Translational Immunology & Department of Paediatric Rheumatology and Immunology, University Medical Center Utrecht, Utrecht, Netherlands.
2
Faculty of Medicine, Utrecht University, Utrecht, Netherlands.
3
Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands.
4
Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.
5
Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy.
6
Institute of Child Health, University College London, London, UK.
7
Department of Paediatric Rheumatology and CEREMAI, Hôpital de Bicêtre, National Reference Centre for Auto-Inflammatory Diseases, le Kremlin-Bicêtre, Paris, France.
8
Pediatric Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
9
Unité Centre Multisite Romande d'Immuno-e Rhumatologie Pediatrique, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
10
Pediatrie, Institutul pentru Ocrotirea Mamei și Copilului, București, Romania.
11
Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital, Praha, Czech Republic.
12
Pediatric Rheumatology, Ospedale Pediatrico Bambin Gesù, Roma, Italy.
13
Dipartimento di Scienze della Sanità Pubblica e Pediatrica, Università degli Studi di Torino, Torino, Italy.
14
Pediatric Rheumatology Unit, Department of Pediatrics, Meir Medical Centre, Kfar Saba and Sackler School of Medicine, Kfar Saba, Israel.
15
Department of Paediatric Rheumatology and Immunology, University Hospital Centre Zagreb, Zagreb, Croatia.
16
Pediatric Department, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russian Federation.
17
Børnereumatologisk, Juliane Marie Centret, Rigshospitalet, København, Denmark.
18
Fourth Department of Pediatrics, Aristotle University of Thessaloniki Papageorgiou Hospital, Thessaloniki, Greece.
19
Department of Woman and Child and General and Specialistic Surgery, University of the Study of Campania Luigi Vanvitelli, Napoli, Italy.
20
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
21
Department of Pediatric Rheumatology, Institute of Rheumatology, BelgradeInstitute of Rheumatology, Belgrade, Serbia.
22
Paediatric Department, Riga Stradins University, Children University Hospital, Rīga, Latvia.
23
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
24
Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Instituto Giannina Gaslini, Genoa, Italy.
25
Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands j.frenkel@umcutrecht.nl marcogattorno@gaslini.org.
26
Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Instituto Giannina Gaslini, Genoa, Italy j.frenkel@umcutrecht.nl marcogattorno@gaslini.org.

Abstract

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.

KEYWORDS:

autoinflammatory diseases; eurofever; inflammation; recurrent fever

Conflict of interest statement

Competing interests: None declared.

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