Browsing by Author "Cimaz, Rolando"

Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases
    (2019) Ter Haar, Nienke M.; Eijkelboom, Charlotte; Cantarini, Luca; Papa, Riccardo; Brogan, Paul A.; Kone-Paut, Isabelle; Modesto, Consuelo; Hofer, Michael; Iagaru, Nicolae; Fingerhutová, Sárka; Insalaco, Antonella; Licciardi, Francesco; Uziel, Yosef; Jelusic, Marija; Nikishina, Irina; Nielsen, Susan; Papadopoulou-Alataki, Efimia; Olivieri, Alma Nunzia; Cimaz, Rolando; Susic, Gordana; Stanevica, Valda; Van Gijn, Marielle; Vitale, Antonio; Ruperto, Nicolino; Frenkel, Joost; Gattorno, Marco; Rīga Stradiņš University
    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.
  • No Thumbnail Available
    Item
    Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
    (2014-10-01) Davì, Sergio; Minoia, Francesca; Pistorio, Angela; Horne, Annacarin; Consolaro, Alessandro; Rosina, Silvia; Bovis, Francesca; Cimaz, Rolando; Gamir, Maria Luz; Ilowite, Norman T.; Kone-Paut, Isabelle; Feitosa De Oliveira, Sheila Knupp; McCurdy, Deborah; Silva, Clovis Artur; Sztajnbok, Flavio; Tsitsami, Elena; Unsal, Erbil; Weiss, Jennifer E.; Wulffraat, Nico; Abinun, Mario; Aggarwal, Amita; Apaz, Maria Teresa; Astigarraga, Itziar; Corona, Fabrizia; Cuttica, Ruben; D'Angelo, Gianfranco; Eisenstein, Eli M.; Hashad, Soad; Lepore, Loredana; Mulaosmanovic, Velma; Nielsen, Susan; Prahalad, Sampath; Rigante, Donato; Stanevicha, Valda; Sterba, Gary; Susic, Gordana; Takei, Syuji; Trauzeddel, Ralf; Zletni, Mabruka; Ruperto, Nicolino; Martini, Alberto; Cron, Randy Q.; Ravelli, Angelo; Rīga Stradiņš University
    Results The study sample included 362 patients with systemic JIA and MAS, 404 patients with active systemic JIA without MAS, and 345 patients with systemic infection. The best capacity to differentiate MAS from systemic JIA without MAS was found when the preliminary MAS guidelines were applied. The 3/5-adapted HLH-2004 guidelines performed better than the 4/5-adapted guidelines in distinguishing MAS from active systemic JIA without MAS. The 3/5-adapted HLH-2004 guidelines and the preliminary MAS guidelines with the addition of ferritin levels ≥500 ng/ml discriminated best between MAS and systemic infections. Conclusion The preliminary MAS guidelines showed the strongest ability to identify MAS in systemic JIA. The addition of hyperferritinemia enhanced their capacity to differentiate MAS from systemic infections. The HLH-2004 guidelines are likely not appropriate for identification of MAS in children with systemic JIA. Objective To compare the capacity of the 2004 diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH-2004) with the capacity of the preliminary diagnostic guidelines for systemic juvenile idiopathic arthritis (JIA)-associated macrophage activation syndrome (MAS) to discriminate MAS complicating systemic JIA from 2 potentially confusable conditions, represented by active systemic JIA without MAS and systemic infection. Methods International pediatric rheumatologists and hemato-oncologists were asked to retrospectively collect clinical information from patients with systemic JIA-associated MAS and confusable conditions. The ability of the guidelines to differentiate MAS from the control diseases was evaluated by calculating the sensitivity and specificity of each set of guidelines and the kappa statistics for concordance with the physician's diagnosis. Owing to the fact that not all patients were assessed for hemophagocytosis on bone marrow aspirates and given the lack of data on natural killer cell activity and soluble CD25 levels, the HLH-2004 guidelines were adapted to enable the diagnosis of MAS when 3 of 5 of the remaining items (3/5-adapted) or 4 of 5 of the remaining items (4/5-adapted) were present.