Pos0872 clinical Features and Outcome of 1054 Patients With Systemic Sclerosis: An Analysis of the Portuguese REUMA.PT Registry for Scleroderma (REUMA.PT/SSC)

Abstract

Background:Systemic sclerosis (SSc) may present distinctive manifestations and survival in different ethnic and geographic groups.Objectives:To describe the clinical features, treatments, and survival of adult SSc patients registered in Reuma.pt/SSc.Methods:Demographic features, SSc subsets, fulfilment of classification criteria, clinical and immunologic characteristics, comorbidities, medication and deaths were reviewed. Survival was calculated for patients included in the registry within the first 2 years of diagnosis.Results:In total, 1054 patients were included, 87.5% female, mean age at diagnosis 52.7 ± 14.8 years. The most common subset was limited cutaneous (lc)SSc (56.3%), followed by diffuse cutaneous (dc)SSc (17.5%), preclinical SSc (13%), overlap syndrome (9.8%) and SSc sine scleroderma (3.3%). Raynaud’s phenomenon (93.4%) and skin thickening (76.9%) were the most observed manifestations. Gastrointestinal (62.8% vs 47.8%), pulmonary (59.5% vs 23%) and cardiac (12.8% vs 6.9%) involvement were significantly more prevalent in dcSSc compared to lcSSc (Table 1). 52.5% of patients were ACA positive and 21% anti-topoisomerase positive, with significant differences between lcSSc and dcSSc. One third of patients was treated with immunomodulators, 53.6% with vasodilators, 23% received glucocorticoids and 2.3% biologics.During the median follow-up 12.4 years, 83 deaths (7.9%) were verified. The overall 1, 2 and 5 years survival was 98.0%, 96.8% and 92.6% respectively, without significant differences between lcSSc and dcSSc (Figure 1).Conclusion:Reuma.pt/SSc register is useful in routine patient monitoring and contributes to improve knowledge about this rare and complex disease. Clinical features of Portuguese SSc patients are similar to what has been described in other populations although the overall 5-year survival in recently diagnosed patients appears to be higher than previously reported.Table 1.Cumulative clinical and immunologic characteristics of Portuguese SSc patientsClinical and immunologic featuresTotalN=1054Limited cutaneous SScN= 576 (56.3%)Diffuse cutaneous SScN=180 (17.5%)P valueSkin involvement – N(%) N=987688 (90.6)525 (90.7)180 (100)<0.01Skin thickening * – N (%) N= 962680 (76.9)512 (88.9)180 (100)<0.01Digital ulcers – N (%) N=970325(33.5)186 (34.7)4 (51.5)<0.01Raynaud’s Phenomenon – N (%) N=1010943 (93.4)539 (95.7)157 (92.4)0.06Musculoskeletal involvement – N(%) N=972346 (45.6)247 (42.7)99 (55)<0.01Cardiac involvement –N(%) – N=92471 (7.7)36 (6.9)19 (12.8)0.02Renal involvement –N(%) – N= 91717 (1.9)8!1.5)6 (4.1)0.07Gastrointestinal involvement - N(%) N=933508 (48.2)277 (47.8)113 (62.8)<0.01Pulmonary involvement – N(%) N=915261 (28.5)119 (23)88 (59.5)<0.01PAH – N(%) N= 87114 (1.6)10 (2)1 (0.7)0.23Intersticial lung disease – N(%) N=765218 (28.5)100 (22.7)75 (57.7)<0.01Antinuclear antibodies - N(%) N=1040934 (89.8)522 (90.2)154 (88.5)0.57Anti-centromere – N(%) N= 1027540 (52.6)383 (67.1)16 (9.5)<0.01Anti-Scl70 – N(%) N=1020214 (21)12 (3.3)104 (60.1)<0.01Anti-RNA polymerase III – N(%) N=71025 (3.5)12 (3.3)7 (5.6)0.38ComorbiditiesHypertension – N(%) N=431117 (27.1)76 (29.7)67 (20.7)0.1Hyperlipidemia – N(%) N=43171 (13.4)72 (12.2)24 (15.9)0.08Neoplasia – N(%) N=105429 (2.8)12 (2.1)7 (3.9)0.14PDE-5 (phosdiasterase-5); PPIs (proton pump inhibitors); PAH-Pulmonary arterial hypertension confirmed by right heart catheterization. Immunomodulators includes Metothrexate, Leflunomide, Hydroxycloroquine; Azathioprine, Mycophenolate Mofetil and Cyclophosphamide; * Does not include sclerodactyly.Figure 1.Panel A - Survival in years from diagnosis of patients with SSc included in Reuma.pt in the first 2 years of disease (N=472). Panel B - survival according to SSc subset (lcSSc and dcSSC).Disclosure of Interests:None declared

Insights into molecular and clinical characteristics of very early systemic sclerosis

“…In 2022, in 1054 SSc Portuguese patients, Freitas et al identified preclinical SSc in 13% and ssSSc in 3.3%, as well as puffy fingers in 62.1% dSSc and 47.3% lSSc ( P < 0.01). It is important to highlight that the authors did not provide the definition of preclinical SSc neither addressed the VEDOSS criteria in their work to identify very early patients [18].…”

Comprehensive description of the prevalence, serological and clinical characteristics, and visceral involvement of systemic sclerosis (scleroderma) in a large cohort from the United Arab Emirates Systemic Sclerosis Registry

“…Several SSc registries have been developed around the world; they contribute to improving the knowledge about rare and complex diseases and help in the management and follow-up of patients. 1,2,[8][9][10][11][12][13][14][15] Such registries can also facilitate research into rare diseases like SSc and can be considered as a prerequisite to selecting uniform cohorts of patients to be potentially included in clinical studies with similar criteria for outcome measurement. 1,4 Nevertheless, studies have revealed heterogeneity of the disease presentations, phenotype, and clinical variants among populations (gender, geographical, partly due to genetic and ethnic heterogeneity).…”