AB0593 DOES REALLY EXIST MIXED CONNECTIVE TISSUE DISEASE?
Authors: L. Montolio-Chiva, J. Narváez, M. Pascual, H. S. Park, A. V. Orenes Vera, E. Flores, J. J. Alegre-Sancho, I. Castellví, J. M. Nolla
Journal: Annals of the Rheumatic Diseases (2020)

Background: Currently, most authors accept that mixed connective tissue disease (MCTD) is an independent entity, although there are those who argue that it is actually an overlap syndrome or an undifferentiated early phase of another systemic autoimmune disease (SAD). Objectives: To analyze the long term evolution of a serie of patients with MCTD. Methods: Observational, retrospective and multicenter study in patients with MCTD ( diagnostic criteria of Alarcón-Segovia et al), followed for a minimun of 2 years. Results: Fifty-five patients (49 women) with a median age at diagnosis of 38±14 years and with a follow up time (median) of 101 months (range, 24-237 months with a total of 501.2 pacients -year ) were identified. At the end of the follow-up period, only 27% (15/55) of the patients kept on fulfilling MCTD criteria. In the remaining 73% (40), 40% (22) had been differentiated to systemic lupus erythematosus (SLE), 13% (7) to systemic sclerosis (SSc) and 20% (11) developed an overlap syndrome [SSc+SLE in 8 cases and SSc+rheumatoid arthritis (AR) in 3]. In 8% of these patients, a secondary Sjögren’s syndrome was diagnosed during the follow-up period. The average score in patients who met the EULAR/ACR 2013 criteria for SSc was 11 (minimum 9 - maximum 16) and the average time elapsed from the diagnosis of MCTD to meet SSc criteria was 64.4 months (interquartile range [IQR] 25-75%: 10-127 months). Applying the 2012 SLICC criteria, only 24 patients of those initially diagnosed as MCTD ended up meeting SLE criteria. The average score in these patients was 5.6 (4-9) and the average time elapsed from the diagnosis of MCTD unltil fulfilling the SLICC criteria was 39 months (IQR 25-75%: 6-28). When we apply the new ACR/EULAR 2019 criteria, the percentage of patients who meet SLE criteria increased to 30%, with an average score of 17.3 (10-38). The average time elapsed since the diagnosis of MCTD until meeting the new SLE criteria was reduced to 17 months (IQR 25-75: 0-10). In the multivariate study, the presence of sclerodactyly (OR: 2.91; IC 95% 1.90 - 4.1, p= 0.001) and esophageal involvement (OR: 2.05; IC 95% 1.14–3.66, p=0.016) were associated with the evolution to SSc. Any predictor of evolution to SLE was identified. Conclusion: Only slightly more than a quarter of patients initially diagnosed as MCTD maintain this diagnosis during the follow-up. The majority, ended up evolving towards to another SAD, fundamentally SLE and SSc. The new ACR/EULAR 2019 criteria seems to be more sensitive than the SLICC 2012 criteria for diagnose SLE in these patients. Disclosure of Interests: L Montolio-Chiva: None declared, J. Narváez: None declared, Maria Pascual: None declared, Hye Sang Park: None declared, Ana V Orenes Vera: None declared, Eduardo Flores: None declared, Juanjo J Alegre-Sancho Consultant of: UCB, Roche, Sanofi, Boehringer, Celltrion, Paid instructor for: GSK, Speakers bureau: MSD, GSK, Lilly, Sanofi, Roche, UCB, Actelion, Pfizer, Abbvie, Novartis, Iván Castellví: None declared, Joan Miquel Nolla: None declared