Background Patients’ objectives and experiences must be core to the study and management of chronic diseases, such as systemic sclerosis (SSc). Although patient-reported outcomes have attracted increasing attention, evaluation of the impact of disease on the overall subjective well-being, equivalent to ‘happiness’, is remarkably lacking. Objectives To examine the determinants of happiness and quality of life in patients with SSc, with emphasis on disease features and personality traits. Methods Observational, cross-sectional multicentre study, including 142 patients, with complete data regarding disease activity, disease impact, personality, health-related quality of life (HR-QoL) and happiness. Structural equation modelling was used to evaluate the association between the variables. Results The results indicated an acceptable fit of the model to the data. Perceived disease impact had a significant negative direct relation with HR-QoL (β=-0.79, p < 0.001) and with happiness (β=-0.52, p < 0.001). Positive personality traits had a positive relation with happiness (β = 0.36, p = 0.002) and an important indirect association upon QoL (β = 0.43) and happiness (β = 0.23). Perceived disease impact is influenced by body image, fatigue, and SSc-related disability to a higher degree (β =  0.6–0.7) than by disease activity (β = 0.28) or form (β = 0.17). Impact of disease had a much stronger relation with HR-QoL than with happiness. Conclusions The results suggest that treatment strategies targeting not only disease control but also the mitigation of relevant domains of disease impact (body image, fatigue, global disability) may be important to improve the patients’ experience of the disease. The reinforcement of resilience factors, such as positive psychological traits, may also play a contributory role towards better patient outcomes.

BackgroundVarious nationwide studies have been already published to better understand Mixed Connective Tissue Disease (MCTD) (1,2). However, Portuguese data is not available.ObjectivesTo characterize clinical and immunological features of a Portuguese cohort of patients with MCTD.MethodsRetrospective, multicenter study including adult-onset patients with clinical diagnosis of MCTD and fulfilling at least one of the following classification criteria: Sharp, Kasukawa, Alarcón-Segovia or the Kahn’s criteria. Positivity to other autoantibodies besides anti-U1-RNP were allowed. SPSS was used for statistical analysis and significance level was defined as 2-sided p<.05.ResultsA total of 98 patients were included, with a mean age at diagnosis and disease duration of 40.5±13.7 and 7.0±6.5 years, respectively. Most patients were female (87.8%) and Caucasian (70.4%). Raynaud’s phenomenon (96.9%), arthralgia/arthritis (94.9/74.5%) and puffy fingers (60.2%) were the most common and early manifestations. Gastroesophageal (GE), respiratory and muscular involvement were also prevalent, mostly during the follow up, affecting 30.6%, 34.7% and 43.9% of the patients, respectively. Clinical and immunological characteristics are described in Table 1. Males were older at symptom’s onset (65.0 VS 46.7, p=.035), having more respiratory involvement (OR=4.5, 95% CI 1.3-16.4), and positivity to anti-ACPA (OR=20.0, 95% CI: 3.1-129.4). GE involvement occurred more often in Caucasian patients (OR=3.8; 95% CI: 1.0-14.1), while anemia of chronic diseases (OR=2.7; 95% CI: 1.0-7.2), myositis (OR=3.6; 95% CI: 1.3-9.9) and constitutional symptoms (OR=3.2; 95% CI: 1.2-8.3) were more frequent in Afro-American patients, whose were also younger at disease (34.1 VS 50.6, p=.01). After a median follow-up time of 4 (IQR 8) years, 4 deaths occurred (4.1%), mostly (75%) due to infectious complications.Table 1.Clinical and immunological characteristicsClinical ManifestationsAt presentationFollow-upMucocutaneous systemRaynaud’s phenomenon, n (%)85 (86.7)95 (96.9)Puffy hands, n (%)48 (49.0)59 (60.2)SSc-like, n (%)43 (44.8)59 (60.8)SLE-like, n (%)28 (28.9)35 (35.7)Musculoskeletal systemArthralgia/Arthritis, n (%)/n (%)81 (82.7) / 56 (57.1)93 (94.9) / 73 (74.5)Myositis, n (%)26 (25.6)43 (43.9)Hematological system, n (%)46 (46.9)70 (71.4)Respiratory system, n (%)14 (14.3)34 (34.7)Cardiovascular system3 (3.1)4 (4.1)Pulmonary hypertension*2 (2.0)15 (15.3)Gastroesophageal involvement, n (%)11 (11.2)30 (30.6)Renal involvement, n (%)2 (2.0)10 (10.2)Neurological involvement, n (%)6 (6.3)14 (14.3)Constitutional symptoms, n (%)26 (26.5)30 (30.6)Immunological characteristicsAnti-dsDNA, n (%)21 (21.4)Anti-smith antibody, n (%)21 (21.4)Anti-Ro/SSA, n (%)31 (31.6)Anti-La/SSB, n (%)7 (7.1)Anti-centromere, n (%)3 (4.1)Rheumatoid Factor, n (%)39 (39.8)Anti- anti-citrullinated protein antibodies, n (%)6 (6.1)Antiphospholipid antibodies, n (%)7 (7.1)Myositis antibodies, n (%)9 (9.2)Complement activation, n (%)27 (27.6)Hypergammaglobulinemia, n (%)51 (52.0)Legend: Anti-dsDNA: anti-double stranded deoxyribonucleic acid antibody; SLE: systemic lupus erythematosus, SSc: systemic sclerosis. *No information regarding cardiac catheterism, then compatible alterations in the echocardiogram.ConclusionRaynaud’s phenomenon, puffy fingers and arthritis were the most common manifestations in Portuguese patients, with similar proportions found in literature (1,2). However, we reported some differences in mucocutaneous, renal and serosa involvement and higher prevalence of probable pulmonary hypertension (1,2), which may be explained by the heterogeneity of the inclusion criteria. Except for respiratory, myositis, GE and constitutional symptoms, there were no differences regarding gender and ethnicity.Here, we characterize the largest cohort of MCTD in Portugal.References[1]Cappelli S, et al. Semin Arthritis Rheum. 2012 Feb;41(4):589–98.[2]Alves MR et al. Clin Exp Med. 2020 May;20(2):159–66.Disclosure of InterestsNone declared

Background/Aims Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of immune-mediated systemic diseases, characterized by muscle inflammation and multiple systemic manifestations. We aimed to characterize clinical manifestations, course, treatment, and mortality of IIM patients. We have also attempted to assess predictors of mortality in IIM. Methods Retrospective single center study IIM patients followed between 1980 and June 2022, including IIM patients fulfilling three or four of the Bohan and Peter criteria. Patients were divided in 6 groups: adult-onset polymyositis (APM), adult-onset dermatomyositis (ADM), juvenile-onset dermatomyositis (JDM), ‘overlap’ myositis (OM), cancer-associated myositis (CAM), and antisynthetase syndrome (ASyS). Sociodemographic, clinical and immunological features and treatment were collected. Additionally, disease complications and causes of death were recorded. The log rank test was used to compare survival curves between subgroups. The Cox proportional hazards regression was used to assess predictors of mortality. Results A total of 158 patients were included with a mean age at diagnosis of 40.81±15.63 years. Most patients were female (77.2%) and Caucasian (63.9%). The most frequent diagnoses were ADM (35.4%), OM (20.9%) and APM (24.7%), respectively. The majority of patients presented with both upper and lower limb involvement (89.2%), with a mean creatinine kinase level of 4423 ± 7633 U/L. Electromyography, muscle biopsy and magnetic resonance were positive for active myositis in 81.3% (104/128), 77.7% (101/130) and 40.9% (54/132), respectively. Antinuclear antibodies were positive in 62.4% of the patients. Remitting and relapsing (RR) was the most common disease course (35.4%). Most patients were treated with a combination of steroids and one-to-three immunosuppressive drugs (74.1%). Interstitial lung disease, gastrointestinal and cardiac involvement were frequent, affecting 38.5%, 36.5% and 23.4% of the patients, respectively. The survival rates at 5, 10, 15, 20 and 25 years of follow-up were 89%, 74%, 67%, 62% and 43%, respectively. During a median follow up of 13.61 ± 10.24 years, 46 (29.1%) have died, mainly due to infection (28.3%), followed by malignancy (19.6%) and cardiovascular events (10.9%). Positive biopsy (p = 0.044), Jo-1 (p = 0.039), malignancy (p = 0.026), cardiac involvement (p = 0.011) and infections (p = 0.016) were associated with mortality. Older age at diagnosis (HR:1.058, 95CI 1.031-1.085), cardiac involvement (HR: 3.23, 95CI 1.60-6.53), and malignancy (HR 2.20, 95CI 1.09-4.44) were independent predictors of mortality. Conclusion IIM is a rare disease with important systemic complications. Older age at diagnosis, cardiac involvement, and malignancy are independent predictors on mortality. Early diagnosis and aggressive treatment of cardiac involvement could improve survival of these patients. Disclosure F. Guimarães: None. R. Yildirim: None. D.A. Isenberg: None.

A male Afro-descendant patient, 57 years old, complaining of polyarticular involvement and weight loss for 18 months, with a load of 13.5 pack years of smoking. On physical examination there was pain on palpation of the right knee and right leg, with signs of inflammation on the knee. We also observed digital clubbing in all fingers. Antinuclear antibodies (ANA) and anti-Sm antibodies were positive. X-rays of the legs and arm showed cortical thickening of long bones. The computed tomography demonstrated a large mass located in the middle lobe of the right lung. The anatomopathological study revealed a bronchial adenocarcinoma. The history of polyarticular involvement associated with positive anti-Sm and ANA antibodies could lead to an erroneous diagnosis of systemic lupus erythematosus. Considering the bad consequences of delayed diagnosis in this patient, the medical team should be alerted for suspecting and look for a lung cancer under these circumstances.

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