Objectives Gastrointestinal (GI) involvement is almost universal in patients with systemic sclerosis (SSc). Our aim was to benchmark and describe GI involvement in SSc, exploring potential clinical associations including in patients with myositis overlap. Design Retrospective, cross-sectional study. Setting Patients attending a UK tertiary referral centre for SSc in 2024. Participants Adult (n=149) patients with an established clinical diagnosis of SSc (excluding a very early diagnosis of SSc). Subgroup analysis of those with myositis overlap. Interventions None; observational study design, including description of prescribed treatments. Main outcome measures Relevant patient and disease-related data were obtained from electronic patient record review. We developed a simple clinician-assessed score to assess GI symptoms burden: 0 (‘none’), 1 (‘effectively managed’) or 2 (‘unmanaged’). Descriptive statistics and appropriate testing were used to describe the data. Results We included 149 patients (female, 86%), most (71%) had limited cutaneous SSc and 13% had myositis. Median (IQR) SSc-disease duration was 11.1 (43.0) years. Over half (61%) had current GI symptoms (score 1 or 2); 43% had unmanaged symptoms (score 2). The most common symptoms were reflux (32%) and dysphagia (28%). Proton pump inhibitor use was high (81%). Both anticentromere (p=<0.001) and anti-Scl70 (p=0.01) antibodies were associated with GI symptoms, but not anti-RNA polymerase (p=0.78). No statistically significant association was seen between GI involvement and interstitial lung disease (p=0.06), pulmonary hypertension (p=0.42) or digital ulcers (p=0.84). No association was observed between GI involvement and disease duration (p=0.44). Over half (63%) with myositis overlap had GI involvement. Conclusions GI involvement is common and often symptomatic in SSc, but not over-represented in patients with myositis overlap. Research is needed to understand natural history, pathobiology and heterogeneity, including early intervention strategies. Trial registration number NCA reference: 25HIP20.
Introduction To evaluate the diagnostic performance of lung ultrasound (LUS) in detecting interstitial lung disease (ILD) in patients with systemic sclerosis (SSc), as a radiation-free alternative to high-resolution CT (HRCT). Methods In this cross-sectional study, 18 adult participants with SSc underwent LUS and HRCT within 1 month as part of routine clinical care without previous knowledge of presence or absence of ILD. A 14-zone LUS protocol was applied and B-lines were quantified using two semiquantitative scoring systems. LUS results were compared with HRCT interpreted by a blinded thoracic radiologist. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. Spearman correlation was used to evaluate the association between total B-line counts and HRCT severity. Results Of 18 participants, ILD was identified by HRCT in 72.2%. Using B-lines cut-off ≤5, LUS demonstrated 100% sensitivity, 40% specificity, 81% PPV and 100% NPV. Using B-lines cut-off ≤10, sensitivity was 92%, specificity 80%, PPV 92% and NPV 80%. B-line counts correlated strongly with HRCT severity (Spearman ρ=0.80, p<0.0001). Conclusion LUS shows high sensitivity and acceptable specificity for detecting ILD in SSc, particularly when using a higher B-line threshold. Future studies that incorporate LUS as an upfront screening tool are needed for validation of our findings.
Objectives To evaluate the diagnostic and prognostic value of serum Krebs von den Lungen-6 (KL-6) and interleukin-18 (IL-18) in detecting interstitial lung disease (ILD) and predicting disease progression and mortality in patients with systemic sclerosis (SSc) over a 24-month period. Design Prospective longitudinal cohort study. Setting Single-centre tertiary referral unit for systemic autoimmune diseases. Participants 74 patients fulfilling classification criteria for SSc were included and stratified according to ILD status based on high-resolution CT (HRCT). Interventions Participants underwent serial clinical assessments, pulmonary function tests and serum biomarker measurements (KL-6, IL-18 and IL-18 binding protein) at baseline, 12 months and 24 months. Main outcome measures Presence and severity of ILD on HRCT, ILD progression (defined by decline in forced vital capacity (FVC) and radiological worsening using the modified Goh score) and all-cause mortality. Results At baseline, 38% of patients had ILD, increasing to 54% at 24 months. The proportion with ≥20% lung involvement rose from 32% to 43%, and extensive disease increased from 11% to 25% (p=0.03). Serum KL-6 and IL-18 levels were significantly higher in patients with SSc-ILD and correlated inversely with % Forced Vital Capacity (%FVC) (r=−0.51, p=0.0007) and %DLCO (r=−0.38, p=0.001). Longitudinal increases in KL-6 were associated with lung function decline and HRCT progression. An annual increase of +14.18 U/mL predicted progressive ILD (area under the curve (AUC) 0.803, p=0.002; sensitivity 80%, specificity 64%). For mortality, an annual increase of +71.17 U/mL demonstrated high predictive accuracy (AUC 0.91, 95% CI 0.84 to 0.99, p<0.0001; sensitivity 75%, specificity 85%). A decline in diffusing capacity for carbon monoxide (DLCO) of −17% per year was also associated with mortality. In multivariable analysis, changes in KL-6, DLCO, C-reactive protein and anti-Scl-70 positivity independently predicted ILD progression, while immunosuppressive therapy was protective (OR 0.27, 95% CI 0.16 to 0.92, p=0.004). Conclusions Serum KL-6 and IL-18 are valuable diagnostic and prognostic biomarkers in SSc-ILD. Baseline levels reflect disease presence and severity, while longitudinal changes in KL-6 provide robust prediction of progression and mortality. These findings support their integration into routine clinical practice for risk stratification and disease monitoring.
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterised by progressive fibrosis affecting multiple organs. This study was set out to uncover disparities in healthcare access among Italian patients with SSc, identify actionable strategies for improving the patient care pathway and assess the costs of living with SSc. Methods A comprehensive 55-item multiple-choice questionnaire was distributed through the patient association Gruppo Italiano per la Lotta alla Sclerodermia, targeting individuals living with SSc. The survey explored patients’ experiences following diagnosis, access to treatments and the financial impact of the disease. An interdisciplinary expert panel convened to interpret the findings and develop recommendations. Results Out of 256 respondents, 40% had lived with SSc for more than 12 years suggesting a sample bias towards advanced disease stages. While nearly three-quarters (75%) were satisfied with their medical care, only 59% felt well-informed about available treatment options. Non-pharmacological therapies, such as physiotherapy, were underused with fewer than half of respondents reporting access. 61% of patients were responsible for covering their own expenses related to these services, pointing to significant gaps in public healthcare coverage. Economic and logistical challenges were widespread: 39% had skipped care due to long wait times or high costs and unpaid leave was common among both patients (15.5%) and their caregivers (38%). Overall, despite high satisfaction with direct medical care, considerable challenges remain in enhancing disease management, patient education, reducing socioeconomic burden and improving overall quality of life. Conclusion The findings highlight an urgent need for a structured, interdisciplinary chronic care model tailored to SSc. Priorities include expanding access to non-pharmacological therapies, strengthening patient education and addressing systemic barriers to care. These insights offer a roadmap toward more equitable, patient-centred healthcare for individuals living with SSc.
Despite advances in rheumatological treatments, patients with systemic sclerosis (SSc) suffer with myriad symptoms and experience associated quality of life decrements. Although SSc-related mortality is reported around 53%, there is a paucity of existing literature describing advance care planning and palliative care in SSc. Here we review symptom management burden and strategies by organ manifestation: interstitial lung disease, pulmonary hypertension, gastrointestinal involvement, cutaneous and musculoskeletal manifestations and digital ischaemia. Then we review domains of palliative care in the context of SSc including psychosocial support, sharing prognostic information, discussing goals of care, advance care planning and comfort-focused care. Finally we suggest unmet research needs in palliative care and SSc.
Objectives:To characterise the myocardial transcriptomic landscape of patients with systemic sclerosis (SSc) with primary heart involvement (pHI) and identify molecular pathways underlying its pathogenesis. Design:A single-centre study exploring the molecular pathogenesis of SSc-pHI through transcriptomic analysis of endomyocardial biopsy specimens. Setting:Basic research. Participant:This study enrolled seven patients with SSc-pHI and eight patients with dilated cardiomyopathy (DCM) who had undergone endomyocardial biopsy for clinical practice purposes. Interventions:No intervention. Main outcome measures:Not applicable. Methods:Endomyocardial biopsy specimens from patients with SSc-pHI and those with DCM underwent whole RNA sequencing. To enable indirect comparison with non-failing (NF) myocardium, public RNA sequencing data of NF and DCM samples were integrated using DCM as a shared reference. Differential gene expression, pathway enrichment (Ingenuity Pathway Analysis and Gene Set Enrichment Analysis) and immune and stromal cell deconvolution were performed. Histopathological evaluation included LC3 immunostaining and transmission electron microscopy (TEM). Results:A total of 700 genes were differentially expressed between SSc and DCM myocardium. Mitochondrial energy metabolism pathways, including oxidative phosphorylation, fatty acid β-oxidation and the tricarboxylic acid cycle, were markedly suppressed in SSc. Indirect comparison with NF myocardium confirmed reciprocal regulation of mitochondrial metabolism and suggested enhanced autophagy. Cell deconvolution revealed enrichment of M1-like macrophages in SSc myocardium. LC3 immunostaining and TEM revealed increased autophagic vacuoles, lipid droplet accumulation and ischaemia-like ultrastructural alterations. Conclusions:SSc myocardium exhibits metabolic reprogramming characterised by mitochondrial dysfunction and enhanced autophagy, accompanied by macrophage activation.
Objective:We evaluated whether nailfold video capillaroscopy (NVC) of one finger is an adequate alternative to detect scleroderma pattern in patients suspected of systemic sclerosis (SSc) compared with the usual eight-finger method. Methods:In this study, NVC images of 87 patients suspected of SSc were analysed for capillary density, capillary dimension, capillary morphology, the presence of microhaemorrhages and pattern. Each individual finger was compared with the eight-finger method using Cohen's kappa agreement. Finally, a two-finger and four-finger combination was analysed using the fingers with highest agreement. Results:After inclusion of 76 patients, NVC of a single finger showed weak to moderate agreement with the eight-finger method in detecting a scleroderma pattern with a Cohen's kappa value ranging from K=0.23 (right digit V) to K=0.47 (right digit IV). NVC of digit IV of both hands provided moderate agreement (K=0.63), whereas a four-finger combination of digit III and IV of both hands provided strong agreement (K=0.82). For detection of giant capillaries and capillary density <7 /mm, the four-finger method provided K=0.82 and K=0.52, respectively. The digit IV of the right hand provided the highest agreement among all the individual fingers for NVC pattern, giant capillaries and capillary density. Conclusion:NVC of a single finger does not represent a reliable alternative for the eight-finger method because of a weak to moderate level of agreement. A four-finger method using digit III and IV of both hands shows strong agreement and could be considered in clinical practice to optimise time efficiency.
Objectives:T follicular helper (Tfh) cells are involved in the pathogenesis of systemic sclerosis (SSc). Recent investigations have revealed aryl hydrocarbon receptor (AhR) regulated skin fibrosis in SSc. This study aims to explore the effect of AhR agonist Ficz on Tfh in a bleomycin (BLM)-induced SSc mouse model. Methods:BALB/c mice were randomly assigned to the control group (Ctrl), BLM-induced SSc mouse group (BLM) and the Ficz treatment group (BLM+Ficz). BLM (1 mg/kg/day) and Ficz (1 µg/mouse/48 hours) were injected subcutaneously for 4 weeks. Skin lesions were harvested for HE staining, Masson's trichrome (Masson) staining, double immunofluorescence as well as real-time quantitative PCR. Flow cytometry analysis was carried out to determine the proportion of peripheral Tfh cells. Results:We found that Ficz treatment effectively attenuated dermal thickness, collagen content and the expression of fibrosis-related genes, including Col1a1, Col3a1, Fn1 and Tgfβ1 compared with the BLM-induced mice. Moreover, the percentage of peripheral Tfh cells (CD4+CXCR5+PD-1+) was significantly elevated in BLM-induced mice and Ficz appeared to reduce the percentage of peripheral Tfh cells. Double immunofluorescence staining verified the presence of Tfh-like cells (CXCR5+PD-1+) in skin lesions of BLM-induced mice. In addition, the messenger RNA level of a key Tfh cytokine, Il21 was decreased in skin of Ficz treated BLM-induced mice, with elevated expression of Cyp1a1, a marker of AhR signalling. Conclusions:Ficz, an AhR agonist, can alleviate skin fibrosis in BLM-induced SSc mice, which may relate to the reduction of Tfh cells and its downstream cytokine interleukin-21 expression through the activation of AhR pathway.
The Scleroderma Clinical Trials Consortium (SCTC) is committed to advancing the understanding and treatment of systemic sclerosis (SSc). This review focuses on the development and validation of various outcome instruments by the SCTC, which are crucial for evaluating the effectiveness of interventions in clinical trials and observational studies. Key instruments discussed include the Assessment of Systemic Sclerosis-Associated RAynaud's Phenomenon Questionnaire, the SCTC Radiologic Scoring System for calcinosis, the Mawdsley Questionnaire for calcinosis, the University of California Los Angeles SCTC Gastrointestinal Tract Instrument (GIT) 2.0, the SCTC Activity Index and the SCTC Damage Index. Additionally, the SCTC and World Scleroderma Foundation (WSF) Skin Scoring Certification is highlighted as an important resource for researchers. Each instrument's purpose, description and validation process are examined, underscoring their pivotal role in advancing SSc research and improving patient outcomes.
Objectives:Systemic sclerosis (SSc) presents complex manifestations that impact disease progression and quality of life. Despite the burden of gastrointestinal (GI) and nutrition-related symptoms, a lack of consensus is apparent regarding the appropriate dietary strategies to support SSc management. The present study aimed to explore the perspectives of rheumatologists regarding the importance of nutrition counselling and nutrition-related patients' needs. Methods:A cross-sectional study was conducted using a sample of 74 rheumatologists in Greece. The Views on Education and Nutrition in Scleroderma (VENUS) questionnaire was employed. The tool assesses three domains: demographics, scleroderma management and nutrition education approaches. Descriptive statistics summarised the findings, while comparisons and correlations were performed, where appropriate. Results:Physicians noted that patients with SSc requested dietary advice for symptom control (58.1%), improving general nutrition knowledge (32.4%) and adhering to specialised diets (29.7%). While practitioners recognised the importance of nutrition in SSc care, they emphasised the value of structured support, including face-to-face consultations (51.4%) and the integration of dietitians into multidisciplinary care teams (40.5%). Patients frequently sought nutritional advice, especially regarding reflux management (74.3%), soft-food diet (47.0%) and less commonly other dietary regimens. Regarding symptomatology, most rheumatologists reported pain, digital ulcers and GI discomfort in over half of their patients. Most commonly reported GI symptoms included reflux (89.2%), bloating (55.4%), heartburn (54.1%) and dysphagia (52.7%). Conclusion:Patients with SSc experience significant pain and GI disturbances and actively seek dietary guidance. Rheumatologists acknowledge the importance of nutrition in disease management and highlight the need for comprehensive multidisciplinary care models involving dietitians, aiming to improve patient outcomes.
Background:Systemic sclerosis (SSc) is a multi-organ autoimmune disease presenting interstitial lung disease (ILD) as the most common internal organ manifestation as it can be found in 25-90% of radiological imaging even without any symptoms. ILD in SSc (ILD-SSc) causes decreased mortality and morbidity, but the effectiveness of mycophenolate immunosuppression treatment reduces ILD progression by 75.5%. The risk of progression is still fairly high during immunosuppression, signifying the need to assess predictor factors for the success of mycophenolate treatment in patients with ILD-SSc. Objective:This study aims to investigate the incidence of successful mycophenolate treatment in ILD-SSc and predictor factors for the success based on real-world experience. Methods:A retrospective cohort design was applied in this study using outpatient medical record data of patients with extensive ILD-SSc from January 2021 to December 2024. Predictor model was developed from the results of multivariate analysis using linear regression followed by performance and internal validity tests. Results:A total of 119 patients with ILD-SSc who met the inclusion criteria were selected as study subjects. The incidence of successful mycophenolate treatment was 68.1%. Predictor factors influencing treatment success in ILD-SSc were obtained from multivariate analysis, such as younger age at onset of ILD-SSc has higher risk ratio for successfull treatment response (RR 2.327; 95% CI 1.510 to 3.586; p<0.001), type limited SSc (RR 0.389; 95% CI 0.251 to 0.602; p<0.001) and extent of ILD at initial diagnosis (RR 2.230; 95% CI 1.356 to 3.670; p=0.002). Predictor score model for mycophenolate treatment success with these three factors had an area under the curve performance of 0.671 (95% CI 0.567 to 0.776; p=0.001) and good calibration based on the Hosmer-Lemeshow test (p=0.576). Conclusion:The success rate of mycophenolate treatment in ILD-SSc at Dr. Cipto Mangunkusumo National Hospital (RSUPN) has comparable results with the reports in other countries. Factors such as age at onset of ILD-SSc diagnosis, extent of ILD and type of SSc are independent predictors of mycophenolate treatment success.
Objectives:Clinical trial data are lacking for treatment of patients with juvenile systemic sclerosis (jSSc). Three published recommendations exist for jSSc but real-world data on treatment patterns are lacking. The aim of this study was to analyse treatments used in the jSSc inception cohort (jSSci) and compare to published recommendations on the treatment of jSSc. Methods:Data was extracted for patients with 24 months follow-up visits in the jSSci up until June 2023. Medications used and their association with clinical characteristics were analysed. Logistic regression analyses were performed to compare treatments between limited and diffuse cutaneous jSSc subtypes, organ involvement and time of initiation of treatment. Multilevel mixed effects logistic regression analyses were used to evaluate the change in medication use in follow-up. Treatment patterns were compared against published recommendations. Results:93 patients had 24 months follow-up data. 77% of patients were receiving disease-modifying treatment (DMARD) at enrolment, which increased to 91% at 24 months (p<0.001). Patients with diffuse cutaneous jSSc subtype had significantly more frequently active ulcerations, skin involvement and received any kind of treatment more often compared with limited (97% vs 91%, p=0.047). Methotrexate was used in 52% of patients at enrolment which decreased to 37% at 24 months (p=0.001). Mycophenolate mofetil use increased from 24% to 46% (p<0.001). Biological DMARDs increased from 5% to 22% (p<0.001). The treatment pattern strongly overlapped with the published paediatric guidance. Conclusion:This is the first report regarding the pattern of medication use in real life in the currently largest patient cohort of patients with jSSc. The observed pattern overlaps with the published recommendations.
Objectives:To explore variations in disease presentation between isolated systemic sclerosis (SSc), primary biliary cholangitis (PBC) and SSc-PBC overlap syndrome. Design:Systematic review conducted according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Setting:Literature search of PubMed, Scopus and Google Scholar for studies published through June 2025. Participants:13 studies (from 1331 initially identified records) including patients with isolated SSc, isolated PBC and SSc-PBC overlap were included. Eligible studies were case-control or cohort designs reporting demographic, serological or clinical outcomes. Interventions:Not applicable. Main outcome measures:Differences in clinical phenotype, serological markers, systemic involvement and mortality between SSc-PBC overlap and isolated disease groups. Results:Patients with SSc-PBC overlap demonstrated distinct clinical characteristics compared with isolated disease phenotypes. Anticentromere antibody and antimitochondrial antibody positivity were significantly higher in overlap patients. The overlap group predominantly included patients with limited cutaneous SSc and had a higher prevalence of extrahepatic autoimmune diseases, particularly Sjögren's syndrome and Hashimoto's thyroiditis. Systemic involvement, including pulmonary, musculoskeletal and cardiac manifestations, was less pronounced in overlap patients compared with isolated SSc. Liver-related mortality was higher in the PBC-only group, whereas mortality in the overlap group was primarily attributable to SSc-related causes. Conclusions:SSc-PBC overlap syndrome represents a distinct clinical and immunological entity. Recognition of this phenotype may facilitate earlier diagnosis, guide management strategies and improve patient outcomes.
Objectives:Associations between Raynaud's phenomenon (RP) and body mass index (BMI), fibromyalgia syndrome (FMS) and migraine have been reported but their influence on the lived experience of RP is unknown. Design:Cross-sectional electronic survey. Setting:A social media-based awareness campaign organised by Scleroderma & Raynaud's UK. Participants:4141 respondents with RP, including 3279 with primary RP (PRP), 476 with systemic sclerosis-related RP (SSc-RP) and 386 with other systemic autoimmune rheumatic disease-related RP (SARD-RP). Interventions:Not applicable. Main outcome measures:RP symptom characteristics (colour change patterns, pain, numbness, tingling and thumb involvement) and their associations with BMI, FMS and migraine. Results:In PRP, low BMI correlated with higher prevalence of cyanosis (55.1% vs 41.2%), hyperaemia (48.2% vs 41.3%), triphasic change (30.4% vs 23.0%) and thumb involvement (36.0% vs 27.0%) compared with high BMI. In PRP, concomitant FMS was associated with higher prevalence of pain (77.7% vs 57.4%), cyanosis (53.8% vs 45.4%), tingling (72.6% vs 62.8%) and thumb involvement (46.2% vs 27.2%) compared with those without FMS. Higher prevalence of pain was reported by FMS respondents with SSc-RP (82.8% vs 69.9%) and SARD-RP (84.1% and 70.9%, respectively). In PRP, migraine was associated with higher prevalence of cyanosis (50.0% vs 44.9%), hyperaemia (50.3% vs 43.7%), pain (69.0% vs 56.2%) and thumb involvement (33.4% vs 27.1%). Migraine was associated with higher prevalence of hyperaemia and pain in SARD-RP. Conclusion:BMI, FMS and migraine influence the lived experience of RP, particularly in PRP. FMS is associated with a greater pain burden, whereas low BMI and migraine are associated with prominent vasospastic features. These aetiopathogenic drivers influence RP symptomatology, with implications for management.
Introduction:Systemic sclerosis (SSc), or scleroderma, is a chronic autoimmune disease marked by excessive collagen deposition and vasculopathy. Oro-facial manifestations of SSc, particularly involving the lips, are common including microcheilia, microstomia, and the classic "mask-like" face, all of which greatly affect patient quality of life. This review explores the lips in both health and SSc. We examine factors affecting lip health, methods of assessment, SSc-specific impacts, and discuss available therapeutic approaches. Methods:A comprehensive literature search was conducted via PubMed and Embase. All article types were considered from inception of the databases, and the search was last run on April 20, 2025. Results:The lips play a critical role in facial expression, communication, and appearance. Anatomy is complex and relevant to SSc pathogenesis. Relevant factors include gender differences, aging patterns, ethnicity, and lifestyle. The pathogenesis of lip involvement in SSc is multifactorial. In SSc, dermal fillers, autologous fat transfer, and platelet-rich plasma therapy have been shown to at least transiently volumize the lips and alleviate tightness. There is a lack of data on long-term benefits as well as standardized assessment tools for lip involvement in SSc. Conclusion:The impact of lip involvement in SSc presents significant unmet clinical needs. There is a critical need to benchmark natural lip variation due to ethnicity, aging, and gender to facilitate research. Future research agendas should focus on defining patient priorities, standardizing imaging techniques to assist in understanding pathogenesis and treatment response, and developing evidence based educational resources for patients and healthcare professionals.
Background:Gastro-esophageal reflux disease (GERD) occurs in most (~75%) patients with systemic sclerosis (SSc) and significantly impacts quality of life. Current recommendations lack depth and therefore, our aim was to produce practical, consensus-based recommendations for refractory SSc-related GERD. Methods:An international, multidisciplinary Steering Board (SB) was assembled (n=19) consisting of clinicians (rheumatologists, gastroenterologists, GI surgeons), an expert methodologist, and patient representation. After reviewing the latest definitions of GERD and refractory GERD in the published literature, the SB collectively devised a practical definition of SSc refractory-GERD. Initial recommendations were drafted/agreed upon by the SB based on review of the existing guidelines, published literature, and expert opinion. Two online voting rounds were conducted to determine whether items should be accepted, with >75% and >60% SB agreement required for first and second rounds, respectively. Results:There was a good response/completion rate for the initial (74%) and final (84%) voting rounds. The SB agreed on all 36 draft recommendations. The majority (n=34) were approved in the first round. Recommendations were organized according to the following categories: general approach to management (n=5), assessment (n=6), non-pharmacological (n=2) and pharmacological (n=10) management, endoscopic and surgical treatment (n=3), and special circumstances, including refractory GERD and SSc-ILD (n=3), myositis and SSc CTD-overlap (n=3) and peri-lung transplant (n=4). Conclusion:The group of experts has drafted extended and practical recommendations for the management of SSc refractory-GERD. The necessity of a structured approach and a patient assessment is highlighted in order to provide a multi-disciplinary approach to the tailored choice of the treatment. Our work also has also identified significant unmet needs and has provided a research agenda to advance the field.
Objectives:Systemic sclerosis is a rare autoimmune connective tissue disease characterized by progressive skin and organ fibrosis, and diffuse fibro-proliferative vascular modifications. Roughly 2%-10% of systemic sclerosis cases develop during juvenile years (under 18 years of age); however, there are limited data on the incidence and prevalence of juvenile systemic sclerosis. This analysis assessed the incidence and prevalence of juvenile systemic sclerosis in the United States, overall and by age group. Methods:Juvenile systemic sclerosis patients with ⩾2 medical diagnostic claims for systemic sclerosis within a 1-year period were identified from the Optum de-identified Clinformatics® Data Mart Database between 2007 and 2021, using International Classification of Diseases diagnostic codes. Incidence and prevalence rates were estimated in the overall population and in a subgroup of patients with at least one filled prescription or infusion of methotrexate, mycophenolate mofetil or cyclophosphamide. Estimates were sex- and/or age-adjusted according to the 2020 US census. Results:Forty-eight incident and 103 prevalent cases were identified. Overall, the age- and sex-adjusted incidence and prevalence of juvenile systemic sclerosis were 2.4 per million person-years and 12.0 per million, respectively. When stratified by age group, incidence and prevalence rates increased with age in the overall and subgroup analyses. Conclusion:In this analysis, incidence and prevalence rates of juvenile systemic sclerosis increased with age. Increasing incidence and prevalence were observed from 10 years old and from 6 years old, respectively. While the overall data are broadly consistent with previous reports, these data provide new information on the estimated incidence and prevalence of juvenile systemic sclerosis by age group.
Introduction/objective:eHealth literacy reflects the ability to obtain, understand, and evaluate health information from electronic sources and apply this information to health problems. Our objective was to evaluate sociodemographic (age, sex, race or ethnicity, education, marital status, country, residence location) and disease factors (duration, subtype) associations with eHealth literacy among individuals with systemic sclerosis (SSc). Methods:Scleroderma Patient-centred Intervention Network (SPIN) Cohort participants completed the 8-item eHealth Literacy Scale (eHEALS) from January 17 to February 18, 2025. Multivariable linear regression was used to assess associations of sociodemographic and disease characteristics with eHealth literacy. Results:The 333 participants were from France (N = 116, 35%), Canada (N = 90, 27%), the United States (N = 85, 26%), the United Kingdom (N = 32, 10%), and Australia, Mexico, or Spain (N = 10, 3%). Most participants were female (N = 295, 89%), White (N = 268, 80%), and had limited SSc (N = 206, 62%). Compared to the United States, participants from Canada (-2.2 points, 95% CI -4.2 to -0.1; standardized mean difference (SMD) = -0.33) and France (-4.2 points, 95% CI -6.2 to -2.3; SMD = -0.64) had significantly lower eHEALS scores. Age, sex, race or ethnicity, marital status, education level, time since first non-Raynaud's symptom onset, and disease subtype were not associated with eHEALS scores. Conclusion:eHealth literacy in SSc was not associated with age and education level as in some other studies but was associated with country. Future research should examine country-level differences in eHealth literacy for individuals with SSc.
Objectives This study was undertaken to develop standardized definitions of individual organ system involvement in systemic sclerosis and their date of onset, with the overall goal of increasing the internal validity and comparability of future clinical trials and observational studies.Methods Under the auspices of the Scleroderma Clinical Trials Consortium, an international working group of experts and patient partners formed nine sub-groups for each of the following organ systems: skin, peripheral vascular, joints/tendons, skeletal muscle, gastrointestinal tract, parenchymal lung, pulmonary arterial hypertension, heart, and kidney. Lists of elements that could be considered as potential criteria for involvement of each organ system were compiled. A three-round Delphi exercise was conducted among Scleroderma Clinical Trials Consortium and the European Scleroderma Trials and Research group members in order to achieve consensus with the larger systemic sclerosis community. Informed by the results of the Delphi exercise, sub-groups proposed composite criteria for organ system involvement, and the international working group approved the final criteria.Results This consensus-driven project involved over 160 systemic sclerosis experts from around the world, organ system specialists, and patient participants. We developed criteria for nine individual organ systems commonly involved in systemic sclerosis, made recommendations for the date of onset thereof, and provided explanatory notes.Conclusions We believe these standardized criteria for systemic sclerosis organ system involvement and date of onset provide useful guidelines for investigators and will enhance the comparability of future clinical trials and observational studies in this disease.
