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1. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

Author

Ravelli, A, Minoia, F, Davì, S, Horne, A, Bovis, F, Pistorio, A, Aricò, M, Avcin, T, Behrens, Em, De Benedetti, F, Filipovic, A, Grom, Aa, Henter, J-i, Ilowite, Nte, Jordan, Mb, Khubchandani, R, Kitoh, T, Lehmberg, K, Lovell, Dj, Miettunen, P, Nichols, Ke, Ozen, S, Schmid, Jp, Ramanan, Av, Russo, R, Schneider, R, Sterba, G, Uziel, Y, Wallace, C, Wouters, C, Wulffraat, N, Demirkaya, E, Brunner, Hi, Martini, A, Ruperto, N, Cron, Rq, Angioloni, S, Pallotti, C, Pesce, M, Rinaldi, M, Villa, L, Abinun, M, Aggarwal, A, Akikusa, J, Al-mayouf, Sm, Alessio, M, Anton, J, Apaz, Mt, Astigarraga, I, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Chasnyk, V, Cimaz, R, Corona, F, Cuttica, R, D'Angelo, G, Davidsone, Z, De Cunto, C, De Inocencio, J, Eisenstein, E, Enciso, S, Espada, G, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Gao, Y-j, Griffin, T, Hashad, S, Hennon, T, Horneff, G, Huasong, Z, Huber, A, Insalaco, A, Ioseliani, M, Jelusic-drazic, M, Jeng, M, Kapovic, A, Kasapcopur, O, Kone-paut, I, De Oliveira Skf, Lattanzi, B, Lepore, L, Li, C, Lipton, Jm, Magni-manzoni, S, Maritsi, D, Mccurdy, D, Merino, R, Mulaosmanovic, V, Nielsen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba-rozenfelde, I, Magalhaes, Cs, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, As, Stanevicha, V, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Tezer, H, Trauzeddel, R, Tsitsami, E, Unsal, E, Vougiouka, O, Weaver, Lk, Weiss, J, Weitzman, S, On Behalf Of The Pediatric Rheumatology International Trials Organization, Zletni M., The Childhood Arthritis & Rheumatology Research Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte Society, Ravelli, A., Minoia, F., Davi, S., Horne, A., Bovis, F., Pistorio, A., Arico, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, A., Grom, A. A., Henter, J. -I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P., Nichols, K. E., Ozen, S., Schmid, J. P., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N., Cron, R. Q., Angioloni, S., Pallotti, C., Pesce, M., Rinaldi, M., Villa, L., Abinun, M., Aggarwal, A., Akikusa, J., Al-Mayouf, S. M., Alessio, M., Anton, J., Apaz, M. T., Astigarraga, I., Ayaz, N. A., Barone, P., Bica, B., Bolt, I., Breda, L., Chasnyk, V., Cimaz, R., Corona, F., Cuttica, R., D'Angelo, G., Davidsone, Z., De Cunto, C., De Inocencio, J., Eisenstein, E., Enciso, S., Espada, G., Fischbach, M., Frosch, M., Gallizzi, R., Gamir, M. L., Gao, Y. -J., Griffin, T., Hashad, S., Hennon, T., Horneff, G., Huasong, Z., Huber, A., Insalaco, A., Ioseliani, M., Jelusic-Drazic, M., Jeng, M., Kapovic, A., Kasapcopur, O., Kone-Paut, I., De Oliveira, S. K. F., Lattanzi, B., Lepore, L., Li, C., Lipton, J. M., Magni-Manzoni, S., Maritsi, D., Mccurdy, D., Merino, R., Mulaosmanovic, V., Nielsen, S., Pal, P., Prahalad, S., Rigante, D., Rumba-Rozenfelde, I., Magalhaes, C. S., Sanner, H., Sawhney, S., Sewairi, W. M., Shakoory, B., Shenoi, S., Clovis, A. S., Stanevicha, V., Stine, K. C., Susic, G., Sztajnbok, F., Takei, S., Tezer, H., Trauzeddel, R., Tsitsami, E., Unsal, E., Vougiouka, O., Weaver, L. K., Weiss, J., Weitzman, S., Zletni, M., and Çocuk Sağlığı ve Hastalıkları

Subjects
medicine.medical_specialty, systemic juvenile idiopathic arthritis, Epidemiology, Immunology, Arthritis, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, Journal Article, Immunology and Allergy, 030212 general & internal medicine, Juvenile Idiopathic Arthritis, Prospective cohort study, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Paediatric Rheumatology, medicine.disease, Outcomes research, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Macrophage activation syndrome, Erythrocyte sedimentation rate, Absolute neutrophil count, sense organs, business
Abstract

OBJECTIVE: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA).METHODS: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of experts was first asked to evaluate 115 profiles of patients with MAS, which included the values of laboratory tests at the pre-MAS visit and at MAS onset, and the change in values between the two time points. The experts were asked to choose the 5 laboratory tests in which change was most important for the diagnosis of MAS and to rank the 5 selected tests in order of importance. The relevance of change in laboratory parameters was further discussed and ranked by the same experts at a consensus conference.RESULTS: Platelet count was the most frequently selected test, followed by ferritin level, aspartate aminotransferase (AST), white cell count, neutrophil count, and fibrinogen and erythrocyte sedimentation rate. Ferritin was most frequently assigned the highest score. At the end of the process, platelet count, ferritin level and AST were the laboratory tests in which the experts found change over time to be most important.CONCLUSIONS: We identified the laboratory tests in which change over time is most valuable for the early diagnosis of MAS in sJIA. The dynamics of laboratory values during the course of MAS should be further scrutinised in a prospective study in order to establish the optimal cut-off values for their variation.

Published
2016
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2. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author

Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia

Subjects
Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract

Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Published
2015
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3. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia

Subjects
Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Published
2013

4. PRINTO/PRES international website for families of children with rheumatic diseases: www.pediatric-rheumatology.printo.it

Author

Ruperto, N, Garcia-Munitis, P, Villa, L, Pesce, M, Aggarwal, A, Fasth, A, Avcin, T, Bae, S, Balogh, Z, Li, C, De Inocencio, J, Dibra, M, Dolezalova, P, Miedany, Y, Flato, B, Harjacek, M, Huppertz, H, Kanakoudi-Tsakali..., F, Wulffraat, N, Lahdenne, P, Melo-Gomes, J, Mihaylova, D, Nielsen, S, Nikishina, I, Ozdogan, H, Pagava, K, Panaviene, V, Prieur, A, Romicka, A, Rumba, I, Shafaie, N, Susic, G, Takei, S, Uziel, Y, Vesely, R, Woo, P, Martini, A, and t for

Subjects
Pediatrics, medicine.medical_specialty, International Cooperation, Immunology, Information Dissemination, Alternative medicine, General Biochemistry, Genetics and Molecular Biology, Self-help, Patient Education as Topic, Rheumatology, Rheumatic Diseases, medicine, Immunology and Allergy, Humans, Pediatric rheumatology, Child, Internet, business.industry, Clinical trial, Clinical Practice, Family medicine, Occasional Piece, Education, Medical, Continuing, business, Paediatric rheumatology, Patient education
Abstract

To prepare a website for families and health professionals containing up to date information about paediatric rheumatic diseases (PRD).Firstly, paediatric rheumatology centres and family self help associations were surveyed to characterise current clinical practice of physicians providing care for children with PRD, research activities, and training facilities of each centre. Secondly, international consensus was reached on the content of the website. Finally, the website was developed and the texts translated.The web page contains three main sections: (a) description for families of the characteristics of 15 PRD; (b) list of paediatric rheumatology centres; (c) contact information for family self help associations. A version for 45 countries in 52 languages (with another three in progress) is now available on the web. 291 surveys from 171 centres and 102 family associations were received from 42 countries. The median proportion of time spent in paediatric practice in the centres examined was 100%, with 70% of this time dedicated to paediatric rheumatology. 90% of the centres were willing to perform clinical trials in the future.The PRINTO/PRES website provides a well defined and competent set of information about PRD, with appropriate multiple translated versions and easy web navigational direction.

Published
2005

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

Author

Joost Frenkel, Valda Stanevica, Michael Hofer, Francesco Licciardi, Antonella Insalaco, Rolando Cimaz, Riccardo Papa, Alma Nunzia Olivieri, Nienke M. ter Haar, Nicolino Ruperto, Susan Nielsen, Paul A. Brogan, Consuelo Modesto, Nicolae Iagaru, Marco Gattorno, Sarka Fingerhutova, Charlotte Eijkelboom, Antonio Vitale, Marielle E. van Gijn, Luca Cantarini, Marija Jelušić, Yosef Uziel, Gordana Susic, Efimia Papadopoulou-Alataki, Isabelle Koné-Paut, Irina Nikishina, Ter Haar, Nm, Eijkelboom, C, Cantarini, L, Papa, R, Brogan, Pa, Kone-Paut, I, Modesto, C, Hofer, M, Iagaru, N, Fingerhutová, S, Insalaco, A, Licciardi, F, Uziel, Y, Jelusic, M, Nikishina, I, Nielsen, S, Papadopoulou-Alataki, E, Olivieri, An, Cimaz, R, Susic, G, Stanevica, V, van Gijn, M, Vitale, A, Ruperto, N, Frenkel, J, and Gattorno, M

Subjects
Male, myalgia, Abdominal pain, Biochemistry, 0302 clinical medicine, eurofever, Adrenal Cortex Hormones, autoinflammatory diseases, inflammation, recurrent fever, Immunology and Allergy, Registries, Age of Onset, Child, 0303 health sciences, Pedigree, 3. Good health, Europe, Child, Preschool, Antirheumatic Agents, Adolescent, Adult, Chronic Disease, Colchicine, Female, Genetic Variation, Hereditary Autoinflammatory Diseases, Humans, Interleukin 1 Receptor Antagonist Protein, Retrospective Studies, Young Adult, medicine.symptom, medicine.drug, medicine.medical_specialty, Immunology, Mucocutaneous zone, General Biochemistry, Genetics and Molecular Biology, Malaise, 03 medical and health sciences, Pericarditis, Rheumatology, Internal medicine, Journal Article, medicine, Recurrent disease, Preschool, 030304 developmental biology, 030203 arthritis & rheumatology, Anakinra, Biochemistry, Genetics and Molecular Biology(all), business.industry, medicine.disease, business, Genetics and Molecular Biology(all)
Abstract

ObjectivesTo describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).MethodsClinical 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.ResultsThis 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%).ConclusionThis 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.

Published
2019

6. Development and initial validation of the macrophage activation syndrome/primary hemophagocytic lymphohistiocytosis score, a diagnostic tool that differentiates primary hemophagocytic lymphohistiocytosis from macrophage activation syndrome

Author

Francesca Minoia, Francesca Bovis, Sergio Davì, Antonella Insalaco, Kai Lehmberg, Susan Shenoi, Sheila Weitzman, Graciela Espada, Yi-Jin Gao, Jordi Anton, Toshiyuki Kitoh, Ozgur Kasapcopur, Helga Sanner, Rosa Merino, Itziar Astigarraga, Maria Alessio, Michael Jeng, Vyacheslav Chasnyk, Kim E. Nichols, Zeng Huasong, Caifeng Li, Concetta Micalizzi, Nicolino Ruperto, Alberto Martini, Randy Q. Cron, Angelo Ravelli, AnnaCarin Horne, Mario Abinun, Amita Aggarwal, Jonathan Akikusa, Sulaiman Al-Mayouf, Maria Teresa Apaz, Tadej Avcin, Nuray Aktay Ayaz, Patrizia Barone, Bianca Bica, Isabel Bolt, Luciana Breda, Rolando Cimaz, Fabrizia Corona, Ruben Cuttica, Zane Davidsone, Carmen De Cunto, Jaime De Inocencio, Erkan Demirkaya, Eli M. Eisenstein, Sandra Enciso, Michel Fischbach, Michael Frosch, Romina Gallizzi, Maria Luz Gamir, Thomas Griffin, Alexei Grom, Soad Hashad, Teresa Hennon, Jan-Inge Henter, Gerd Horneff, Adam Huber, Norman Ilowite, Maka Ioseliani, Agneza Marija Kapović, Raju Khubchandani, Isabelle Koné-Paut, Sheila Knupp Feitosa de Oliveira, Bianca Lattanzi, Loredana Lepore, Jeffrey M. Lipton, Silvia Magni-Manzoni, Despoina Maritsi, Deborah McCurdy, Paivi Miettunen, Velma Mulaosmanovic, Susan Nielsen, Seza Ozen, Priyankar Pal, Sampath Prahalad, Donato Rigante, Ingrida Rumba-Rozenfelde, Ricardo Russo, Claudia Saad Magalhães, Wafaa Mohamed Saad Sewairi, Clovis Artur Silva, Valda Stanevicha, Gary Sterba, Kimo C. Stine, Gordana Susic, Flavio Sztajnbok, Syuji Takei, Ralf Trauzeddel, Elena Tsitsami, Erbil Unsal, Yosef Uziel, Olga Vougiouka, Carol A. Wallace, Lehn Weaver, Jennifer E. Weiss, Carine Wouters, Nico Wulffraat, Mabruka Zletni, Maurizio Arico, R. Maarten Egeler, Alexandra H. Filipovich, Helmut Gadner, Shinsaku Imashuku, Gritta Janka, Stephan Ladisch, Ken L. McClain, David Webb, Minoia, F., Bovis, F., Davi, S., Insalaco, A., Lehmberg, K., Shenoi, S., Weitzman, S., Espada, G., Gao, Y. -J., Anton, J., Kitoh, T., Kasapcopur, O., Sanner, H., Merino, R., Astigarraga, I., Alessio, M., Jeng, M., Chasnyk, V., Nichols, K. E., Huasong, Z., Li, C., Micalizzi, C., Ruperto, N., Martini, A., Cron, R. Q., Ravelli, A., Horne, A., Abinun, M., Aggarwal, A., Akikusa, J., Al-Mayouf, S., Apaz, M. T., Avcin, T., Ayaz, N. A., Barone, P., Bica, B., Bolt, I., Breda, L., Cimaz, R., Corona, F., Cuttica, R., Davidsone, Z., De Cunto, C., De Inocencio, J., Demirkaya, E., Eisenstein, E. M., Enciso, S., Fischbach, M., Frosch, M., Gallizzi, R., Gamir, M. L., Griffin, T., Grom, A., Hashad, S., Hennon, T., Henter, J. -I., Horneff, G., Huber, A., Ilowite, N., Ioseliani, M., Kapovic, A. M., Khubchandani, R., Kone-Paut, I., de Oliveira, S. K. F., Lattanzi, B., Lepore, L., Lipton, J. M., Magni-Manzoni, S., Maritsi, D., Mccurdy, D., Miettunen, P., Mulaosmanovic, V., Nielsen, S., Ozen, S., Pal, P., Prahalad, S., Rigante, D., Rumba-Rozenfelde, I., Russo, R., Magalhaes, C. S., Sewairi, W. M. S., Artur Silva, C., Stanevicha, V., Sterba, G., Stine, K. C., Susic, G., Sztajnbok, F., Takei, S., Trauzeddel, R., Tsitsami, E., Unsal, E., Uziel, Y., Vougiouka, O., Wallace, C. A., Weaver, L., E. Weiss, J., Wouters, C., Wulffraat, N., Zletni, M., Arico, M., Egeler, R. M., Filipovich, A. H., Gadner, H., Imashuku, S., Janka, G., Ladisch, S., Mcclain, K. L., and Webb, D.

Subjects
Male, 0301 basic medicine, Hemophagocytic, Logistic regression, Pediatrics, hemophagocytic syndrome, 0302 clinical medicine, diagnostic score, Diagnosis, Medicine, Cutoff, Child, primary hemophagocytic lymphohistiocytosi, Lymphohistiocytosis, education.field_of_study, primary hemophagocytic lymphohistiocytosis, Perinatology and Child Health, Quartile, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Macrophage activation syndrome, Child, Preschool, macrophage activation syndrome, Absolute neutrophil count, Female, Human, medicine.medical_specialty, Adolescent, Population, Lymphohistiocytosis, Hemophagocytic, Diagnosis, Differential, 03 medical and health sciences, Internal medicine, Humans, Preschool, education, 030203 arthritis & rheumatology, Receiver operating characteristic, business.industry, Infant, Reproducibility of Results, medicine.disease, Surgery, 030104 developmental biology, Macrophage Activation Syndrome, Pediatrics, Perinatology and Child Health, Differential, Differential diagnosis, business
Abstract

OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the individual scores of selected variables. The cutoff in the MH score that discriminated pHLH from MAS best was calculated by means of receiver operating characteristic curve analysis. Score performance was examined in both developmental and validation samples. RESULTS: Six variables composed the MH score: age at onset, neutrophil count, fibrinogen, splenomegaly, platelet count, and hemoglobin. The MH score ranged from 0 to 123, and its median value was 97 (1st-3rd quartile 75-123) and 12 (1st-3rd quartile 11-34) in pHLH and MAS, respectively. The probability of a diagnosis of pHLH ranged from 99% for a score of =123. A cutoff value of =60 revealed the best performance in discriminating pHLH from MAS. CONCLUSION: The MH score is a powerful tool that may aid practitioners to identify patients who are more likely to have pHLH and, thus, could be prioritized for functional and genetic testing.

Published
2017

7. The Pediatric Rheumatology International Trials Organization criteria for the evaluation of response to therapy in juvenile systemic lupus erythematosus: prospective validation of the disease activity core set

Author

Kirsten Minden, Yvonne See, Fernanda Falcini, Flavio Sztajnbok, Alma Nunzia Olivieri, Phil Riley, Seza Ozen, Daniel J. Lovell, Graciela Espada, Ozgur Kasapcopur, Francesco Zulian, Angelo Ravelli, Oscar Porras, M.L. Gamir, Yosef Uziel, Gordana Susic, Blanca Elena Rios Gomes Bica, I. Rumba, Silvio Cavuto, Ruben Cuttica, Rolando Cimaz, Angela Pistorio, Cecilia Coto, Alberto Martini, Mukamel M, Hermann J. Girschick, Helen Venning, Joan Ros, Rosa Merino, Nicolino Ruperto, Ruperto, N, Ravelli, A, Cuttica, R, Espada, G, Ozen, S, Porras, O, Sztajnbok, F, Falcini, F, Kasapcopur, O, Venning, H, Bica, B, Merino, R, Coto, C, Ros, J, Susic, G, Gamir, Ml, Minden, K, See, Y, Uziel, Y, Mukamel, M, Riley, P, Zulian, F, Olivieri, Alma Nunzia, Cimaz, R, Girschick, H, Rumba, I, Cavuto, S, Pistorio, A, Lovell, Dj, and Martini, A.

Subjects
medicine.medical_specialty, Lupus erythematosus, treatment, business.industry, Juvenile Systemic Lupus Erythematosu, Immunology, Construct validity, Evidence-based medicine, medicine.disease, Systemic therapy, Rheumatology, Clinical trial, Quality of life, Internal medicine, Severity of illness, medicine, Physical therapy, Immunology and Allergy, Pharmacology (medical), business, Intensive care medicine
Abstract

Objective To validate and promulgate a core set of outcome measures for the evaluation of response to treatment in patients with juvenile systemic lupus erythematosus (SLE). Methods In 2001, a preliminary consensus-derived core set of measures for evaluating the response to therapy in juvenile SLE was established. In the present study, the core set was validated through an evidence-based, large-scale data collection process that led to the enrollment of 557 patients from 39 different countries. Consecutive patients with active disease were assessed at baseline and after 6 months. The validation procedures included assessment of feasibility, responsiveness, discriminant and construct ability, agreement in the evaluation of response to therapy between physicians and parents, redundancy, internal consistency, and ability to predict a therapeutic response. Results The following clinical measures were found to be feasible and to have good construct validity, discriminative ability, and internal consistency; furthermore, they were not redundant, proved responsive to clinically important changes in disease activity, and were associated strongly with treatment outcome and thus were included in the final core set: 1) physician's global assessment of disease activity, 2) global disease activity measure, 3) 24-hour proteinuria, 4) parent's global assessment of the patient's overall well-being, and 5) health-related quality of life assessment. Conclusion The members of PRINTO propose a core set of criteria for the evaluation of response to therapy that is scientifically and clinically relevant and statistically validated. The core set will help standardize the conduct and reporting of clinical trials and assist practitioners in deciding whether a patient with juvenile SLE has responded adequately to therapy.

Published
2005

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