TY - JOUR T1 - Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - 1405 LP - 1411 DO - 10.1136/annrheumdis-2018-214472 VL - 78 IS - 10 AU - Nienke M Ter Haar AU - Charlotte Eijkelboom AU - Luca Cantarini AU - Riccardo Papa AU - Paul A Brogan AU - Isabelle Kone-Paut AU - Consuelo Modesto AU - Michael Hofer AU - Nicolae Iagaru AU - Sárka Fingerhutová AU - Antonella Insalaco AU - Francesco Licciardi AU - Yosef Uziel AU - Marija Jelusic AU - Irina Nikishina AU - Susan Nielsen AU - Efimia Papadopoulou-Alataki AU - Alma Nunzia Olivieri AU - Rolando Cimaz AU - Gordana Susic AU - Valda Stanevica AU - Marielle van Gijn AU - Antonio Vitale AU - Nicolino Ruperto AU - Joost Frenkel AU - Marco Gattorno A2 - , Y1 - 2019/10/01 UR - http://ard.bmj.com/content/78/10/1405.abstract N2 - 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. ER -