Journal of Scleroderma and Related Disorders最新文献

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.

Objective: Pain and fatigue are among the most prevalent and disabling symptoms in patients with systemic sclerosis, significantly impairing quality of life and daily functioning. Despite their high burden, these symptoms are frequently underrecognized and undertreated by clinicians. This narrative review aims to synthesize current evidence and practical approaches to support multidisciplinary care in the assessment and non-pharmacological management of pain and fatigue in systemic sclerosis.

Methods: We conducted a comprehensive review of the literature focusing on the multifactorial causes, diagnostic workup, and non-pharmacological treatment strategies for pain and fatigue in systemic sclerosis. This narrative review integrates evidence-based recommendations, expert consensus statements, and reflects best current clinical practice.

Results: Pain and fatigue in patients with systemic sclerosis are underestimated and often multifactorial. Pain in systemic sclerosis may arise from musculoskeletal, neuropathic, vascular, gastrointestinal, and iatrogenic sources, while fatigue is driven by cardiopulmonary involvement, malnutrition, endocrine dysfunction, poor sleep quality, and psychological factors. Accurate symptom assessment requires a combination of patient-reported outcome measures, clinical examination, imaging modalities, and laboratory testing. Non-pharmacological interventions, including physical rehabilitation, cognitive behavioural therapy, nutritional support, and mind-body practices, demonstrate particularly promising benefits in symptom relief and functional improvement, although high-quality evidence in systemic sclerosis remains limited.

Conclusion: A personalized, holistic approach is essential to effectively address pain and fatigue in patients with systemic sclerosis. Interdisciplinary care involving rheumatologists, nurses, physiotherapists, nutritionists, psychologists, and occupational therapists is key to optimizing outcomes. Our data show that some unmet needs await to be addressed and therefore an agenda for future research is proposed to improve quality of life in patients with systemic sclerosis.

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.

Objective: The objective of this study is to examine the efficacy of ultrasonography in evaluating and tracking the healing process of digital ulcers in patients with systemic sclerosis.

Methods: The study cohort comprised 23 patients with systemic sclerosis and digital ulcers. Gray Scale and Power Doppler ultrasonography was employed for the assessment of lesions. Subsequently, a sharp debridement was administered, followed by the application of hydrocolloid dressings. The healing process was then monitored through follow-up and using ultrasonography.

Results: Of the 46 ulcers observed, 34 demonstrated complete healing, while 12 did not. The use of Power Doppler ultrasonography was found to be a highly significant indicator of healing. Significant statistical differences were observed in lesion dimensions (length, width, depth) between the healed and non-healed groups and a strong correlation was observed between the reduction in lesion dimensions and the healing process. The results of the point-biserial correlation analysis indicated a robust positive correlation between healing and alterations in length (r = 0.600) and width (r = 0.576), and a moderate positive correlation with depth (r = 0.400).

Conclusion: The findings of this study indicate that the ultrasonography is a feasible and objective method to assess digital ulcers and their healing. Reduction of length and width and presence of Power Doppler ultrasonography are strong indicators of wound repair. Furthermore, the presence of necrotic tissue is not an indicator for a poor outcome. Ultrasonography offers comprehensive qualitative and quantitative data that facilitate a deeper comprehension and monitoring of the healing process.

Objectives: To investigate the prevalence of aspiration and its association with GI involvement and clinical features in systemic sclerosis (SSc).

Methods: Fifty patients with SSc who underwent the videofluoroscopic (VF) swallowing study were included. Aspiration was identified by the presence of aspiration and/or penetration defined by the Penetration-Aspiration Scale. The radiological findings including the residue in the oral cavity, pharynx and esophagus, which reflect oral, pharyngeal, and esophageal involvement, were also evaluated.

Results: Twenty-three patients (46%) had aspiration and/or penetration. Patients with aspiration and/or laryngeal penetration had more pharyngeal vallecular residue (None 22%, Trace 44%, Mild 56%; p = 0.072) and esophageal residue (None 0%, Mild 20%, Moderate 40%, Severe 61%; p = 0.010). Esophageal, pharyngeal, and lower GI involvement were found in 98%, 83%, and 54%, respectively. Notably, the group with esophageal and pharyngeal plus lower GI involvement had a higher frequency of aspiration and/or penetration (79% vs 28%; p = 0.003), higher FSSG scores (18.4 ± 11.8 vs 5.4 ± 5.7; p = 0.002), and higher UCLA GIT-2.0 total scores (None-to-Mild 47% vs 100%, Moderate 42% vs 0%, Severe-to-Very severe 11% vs 0%; p = 0.001) compared to those limited esophageal and pharyngeal involvement. By multivariate analysis, aspiration and/or penetration was associated with pharyngeal vallecular residue (Odds ratio (OR) 3.71; p = 0.012) and esophageal residue (OR 2.92; p = 0.011), and higher UCLA GIT-2.0 scores for diarrhea (OR 3.68; p = 0.028) and the total score (OR 4.21; p = 0.046).

Conclusion: In our study, about half of the patients had aspiration and/or penetration in SSc. Aspiration was associated with the extent of radiographic abnormalities of pharyngeal and esophageal involvement on the VF swallowing study. Patients with lower GI have aspiration and high UCLA GIT-2.0 scores suggesting that these patients had more severe GI manifestation.

SclerEDEMA is a rare condition marked by diffuse skin thickening, often confused with sclerODERMA. It is linked with infections, malignancies, and diabetes. Although scleredema is associated with hematologic malignancies like multiple myeloma, it has not been reported with breast cancer, as suspected in this patient. We present a case of a patient diagnosed with scleredema, confirmed through skin biopsy. Subsequent cancer screenings identified a 6 mm breast nodule, which was confirmed as grade 3 ductal carcinoma. This newfound association between scleredema and breast cancer highlights the importance of vigilant health maintenance and regular cancer screenings in these patients.

Background: Functional disability is a major concern for individuals with systemic sclerosis (SSc). The Health Assessment Questionnaire-Disability Index (HAQ-DI) measures the ability to perform activities of daily living, with higher scores indicating poorer function.

Objective: To define the frequency and clinical associations of minimum clinically important difference (MCID) change in HAQ-DI scores in SSc.

Methods: Australian Scleroderma Cohort Study participants with two or more HAQ-DI scores ⩽ 2 visits apart were included. Generalised estimating equations were used to model the correlates of the MCID improvement (-0.125 points) and MCID worsening (+0.14 points) of HAQ-DI scores. Subgroup analysis in those with incident (⩽5 years SSc duration at recruitment) and diffuse SSc (dcSSc) were performed.

Results: Of 1117 participants, 712 (64%) recorded worsening of HAQ-DI scores. Of 827 participants with baseline HAQ-DI ⩾ 0.125 units, 585 (71%) had recorded improvement. Across 3229 study visits, older age (odds ratio (OR) 1.1, 95% confidence interval (CI) 1.1-1.1, p < 0.01), higher skin score (OR 1.1, 95% CI 1.0-1.2, p = 0.01), digital ulcers (OR 1.3, 95% CI 1.0-1.5, p = 0.02), raised C-reactive protein (CRP; OR 1.3, 95% CI 1.1-1.6, p < 0.01) and patient-reported worsening Raynaud's phenomenon (RP; OR 1.2, 95% CI 1.0-1.4, p = 0.04) and dyspnoea (OR 1.3, 95% CI 1.1-1.6, p < 0.01) were associated with worsening of HAQ-DI scores. In those with incident SSc, raised CRP and patient-reported worsening RP and dyspnoea were associated with worsening of HAQ-DI scores. In dcSSc, only raised CRP was associated with worsening HAQ-DI scores, while in lcSSc higher baseline HAQ-DI score, older age, higher skin score, proximal weakness and worsening dyspnoea were associated with worsening scores. Only higher baseline HAQ-DI score was associated with improvement in HAQ-DI scores in the overall cohort (OR 1.3, 95% CI 1.2-1.5, p < 0.01).

Conclusions: Two-thirds of a large SSc cohort demonstrated significant change in physical function. Worsening symptom burden and elevated CRP were important determinants of worsening function.

Introduction: Digital ulcers are an important disease manifestation of systemic sclerosis and are associated with significant morbidity. As such, there is an urgent need for the development of evidence-based recommendations to guide clinicians in the treatment of digital ulcers.

Methods: A steering committee of international experts was established. A systematic review of the literature pertaining to the use of pharmacologic treatments in the management of digital ulcers was performed to inform the development of treatment recommendations for systemic sclerosis digital ulcers. Consensus methodology was used to develop the final treatment recommendations.

Results: The World Scleroderma Foundation committee agreed on 8 overarching treatment principles and 10 pharmacologic treatment recommendations for the management of systemic sclerosis digital ulcers. Phosphodiesterase 5 inhibitors and intravenous iloprost were recommended for the management of acute digital ulcers. Bosentan was recommended for prevention of digital ulcers.

Conclusion: This study has yielded pragmatic treatment recommendations to direct treatment decisions for the management of systemic sclerosis digital ulcers. In addition, results have highlighted areas in need of future research in order to improve patient outcomes.

Objective: The objective of the study was to assess the type D personality, social inhibition, and negative affectivity and their association with cardiovascular risk and disease-related parameters in patients with systemic sclerosis.

Materials and methods: This cross-sectional study included patients with systemic sclerosis (n = 84) and controls (n = 74). We recorded the sociodemographic parameters, blood pressure (mmHg), and laboratory parameters (mg/dL) of the study groups, as well as disease-related parameters in patients with systemic sclerosis, along with the modified Rodnan skin score. The type D Scale-14 for type D personality (social inhibition and negative affectivity) and the Framingham risk score for 10-year cardiovascular disease risk to the study groups were administered.

Results: The mean age, type D Scale-14 total score, Framingham risk score, and median total modified Rodnan skin score were 55.7 ± 11.6 years, 28.2 ± 13.6, 9.1± 8.1, and 17.5 (13), respectively, in patients with systemic sclerosis. The frequency of type D personality, social inhibition, and negative affectivity was higher in patients than in controls, at 59.5% vs 14.9%, 65.5% vs 23%, and 78.6% vs 32.4%, respectively (p < 0.001 for all). The median Framingham risk score was statistically similar for patients, controls, and patients with and without type D personality (p > 0.05 for all). Compared to those without social inhibition, patients with social inhibition had higher total modified Rodnan skin scores (p = 0.011). Social inhibition exhibited a weakly positive correlation with the total modified Rodnan skin score (Spearman's ρ = 0.223), yet regression analysis did not achieve significance.

Conclusions: More than half of patients with systemic sclerosis display type D personality traits. Patients with serious skin fibrosis experience more social inhibition, so it is important to provide psychological and social support to them.