An international registry on autoinflammatory diseases: the Eurofever experience

• Published in: Annals of the rheumatic diseases Vol. 71; no. 7; p. 1177
• Main Authors: Toplak, Natasa, Frenkel, Joost, Ozen, Seza, Lachmann, Helen J, Woo, Patricia, Koné-Paut, Isabelle, De Benedetti, Fabrizio, Neven, Benedicte, Hofer, Michael, Dolezalova, Pavla, Kümmerle-Deschner, Jasmin, Touitou, Isabelle, Hentgen, Veronique, Simon, Anna, Girschick, Herman, Rose, Carlos, Wouters, Carine, Vesely, Richard, Arostegui, Juan, Stojanov, Silvia, Ozgodan, Huri, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco
• Format: Journal Article
• Language: English
• Published: England 01-07-2012
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Behcet Syndrome - diagnosis; Behcet Syndrome - epidemiology; Behcet Syndrome - genetics; Child; Child, Preschool; Cryopyrin-Associated Periodic Syndromes - diagnosis; Cryopyrin-Associated Periodic Syndromes - epidemiology; Cryopyrin-Associated Periodic Syndromes - genetics; Demography; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - epidemiology; Familial Mediterranean Fever - genetics; Female; Genes, Recessive; Genetic Predisposition to Disease; Global Health; Hereditary Autoinflammatory Diseases - diagnosis; Hereditary Autoinflammatory Diseases - epidemiology; Hereditary Autoinflammatory Diseases - genetics; Heterozygote; Humans; Infant; International Cooperation; Internet; Male; Middle Aged; Registries; Young Adult
• ISSN: 1468-2060
• DOI: 10.1136/annrheumdis-2011-200549

To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project.
A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms.
1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3-76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997.
A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions.