1. Childhood-onset of primary Sjögren’s syndrome: phenotypic characterization at diagnosis of 158 children
- Author
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Ramos-Casals, M., Acar-Denizli, N., Vissink, A., Brito-Zeron, P., Li, X., Carubbi, F., Priori, R., Toplak, N., Baldini, C., Faugier-Fuentes, E., Kruize, A. A., Mandl, T., Tomiita, M., Gandolfo, S., Hashimoto, K., Hernandez-Molina, G., Hofauer, B., Mendieta-Zeron, S., Rasmussen, A., Sandhya, P., Sene, D., Trevisani, V. F. M., Isenberg, D., Sundberg, E., Pasoto, S. G., Sebastian, A., Suzuki, Y., Retamozo, S., Xu, B., Giacomelli, R., Gattamelata, A., Bizjak, M., Bombardieri, S., Loor-Chavez, R. -E., Hinrichs, A., Olsson, P., Bootsma, H., Lieberman, S. M., Kostov, B., Horvath, I. -F., Szanto, A., Seror, R., Mariette, X., Kvarnstrom, M., Wahren-Herlenius, M., Praprotnik, S., Solans, R., Nordmark, G., Hammenfors, D., Brun, J. G., Gheita, T. A., Atzeni, F., Armagan, B., Kilic, L., Kalyoncu, U., Nakamura, T., Takagi, Y., Consani, S., Solorzano, F. O., Translational Immunology Groningen (TRIGR), Personalized Healthcare Technology (PHT), Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, and Universitat Politècnica de Catalunya. ADBD - Anàlisi de Dades Complexes per a les Decisions Empresarials
- Subjects
Male ,Systemic disease ,Anti-nuclear antibody ,Epidemiology ,Autoimmune diseases ,Matemàtiques i estadística::Matemàtica aplicada a les ciències [Àrees temàtiques de la UPC] ,Disease ,Severity of Illness Index ,Parotid Gland ,Medicine ,CLASSIFICATION CRITERIA ,Pharmacology (medical) ,Registries ,Age of Onset ,biology ,92 Biology and other natural sciences::92B Mathematical biology in general [Classificació AMS] ,Dry eyes ,Phenotype ,Sjogren's syndrome ,Female ,epidemiology ,Antibody ,medicine.symptom ,PAROTITIS ,medicine.medical_specialty ,Biomatemàtica ,Adolescent ,62 Statistics::62D05 Sampling theory, sample surveys [Classificació AMS] ,Childhood ,Paediatrics ,Humans ,Sjogren's Syndrome ,paediatrics ,AGE ,Rheumatology ,Peripheral nerve ,Rheumatoid factor ,autoimmune diseases ,Sampling (Statistics) ,Primary Sjögren Syndrome ,childhood ,Biomathematics ,Matemàtiques i estadística::Estadística aplicada::Estadística biosanitària [Àrees temàtiques de la UPC] ,business.industry ,CLINICAL-FEATURES ,medicine.disease ,Dry mouth ,Dermatology ,stomatognathic diseases ,biology.protein ,Sjogren’s syndrome ,CONSENSUS ,business ,Mostreig (Estadística) ,Parotitis - Abstract
Objectives To characterize the phenotypic presentation at diagnosis of childhood-onset primary SS. Methods The Big Data Sjögren Project Consortium is an international, multicentre registry using worldwide data-sharing cooperative merging of pre-existing clinical SS databases from the five continents. For this study, we selected those patients in whom the disease was diagnosed below the age of 19 years according to the fulfilment of the 2002/2016 classification criteria. Results Among the 12 083 patients included in the Sjögren Big Data Registry, 158 (1.3%) patients had a childhood-onset diagnosis (136 girls, mean age of 14.2 years): 126 (80%) reported dry mouth, 111 (70%) dry eyes, 52 (33%) parotid enlargement, 118/122 (97%) positive minor salivary gland biopsy and 60/64 (94%) abnormal salivary US study, 140/155 (90%) positive ANA, 138/156 (89%) anti-Ro/La antibodies and 86/142 (68%) positive RF. The systemic EULAR Sjögren’s syndrome disease activity index (ESSDAI) domains containing the highest frequencies of active patients included the glandular (47%), articular (26%) and lymphadenopathy (25%) domains. Patients with childhood-onset primary SS showed the highest mean ESSDAI score and the highest frequencies of systemic disease in 5 (constitutional, lymphadenopathy, glandular, cutaneous and haematological) of the 12 ESSDAI domains, and the lowest frequencies in 4 (articular, pulmonary, peripheral nerve and CNS) in comparison with patients with adult-onset disease. Conclusions Childhood-onset primary SS involves around 1% of patients with primary SS, with a clinical phenotype dominated by sicca features, parotid enlargement and systemic disease. Age at diagnosis plays a key role in modulating the phenotypic expression of the disease.
- Published
- 2021