Titre
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Ter Haar, N.M.
Auteure/Auteur
Eijkelboom, C.
Auteure/Auteur
Cantarini, L.
Auteure/Auteur
Papa, R.
Auteure/Auteur
Brogan, P.A.
Auteure/Auteur
Kone-Paut, I.
Auteure/Auteur
Modesto, C.
Auteure/Auteur
Hofer, M.
Auteure/Auteur
Iagaru, N.
Auteure/Auteur
Fingerhutová, S.
Auteure/Auteur
Insalaco, A.
Auteure/Auteur
Licciardi, F.
Auteure/Auteur
Uziel, Y.
Auteure/Auteur
Jelusic, M.
Auteure/Auteur
Nikishina, I.
Auteure/Auteur
Nielsen, S.
Auteure/Auteur
Papadopoulou-Alataki, E.
Auteure/Auteur
Olivieri, A.N.
Auteure/Auteur
Cimaz, R.
Auteure/Auteur
Susic, G.
Auteure/Auteur
Stanevica, V.
Auteure/Auteur
van Gijn, M.
Auteure/Auteur
Vitale, A.
Auteure/Auteur
Ruperto, N.
Auteure/Auteur
Frenkel, J.
Auteure/Auteur
Gattorno, M.
Auteure/Auteur
Groupes de travail
Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO)
Liens vers les personnes
Liens vers les unités
ISSN
1468-2060
Statut éditorial
Publié
Date de publication
2019-10
Volume
78
Numéro
10
Première page
1405
Dernière page/numéro d’article
1411
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).
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.
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%).
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.
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.
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%).
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.
Sujets
PID Serval
serval:BIB_5E7B2C4FA362
PMID
Date de création
2019-07-21T14:42:53.113Z
Date de création dans IRIS
2025-05-20T14:41:32Z