Journal of Scleroderma and Related Disorders最新文献

Autonomic dysfunction is a common and early complication among patients with systemic sclerosis, suggesting that it may play a role in the pathogenesis of the disease and be a potential target for therapeutic interventions. Although the true prevalence of autonomic dysfunction among patients with systemic sclerosis is still unclear, it is estimated that as many as 80% of patients may be affected. Autonomic dysfunction may lead to widespread multi-organ dysfunction through its effects on the cardiovascular system, gastrointestinal tract, urinary tract, sweat and salivary glands, and pupils. Early identification of systemic sclerosis associated with dysautonomia may guide prompt diagnosis in this complex patient population and lay the groundwork for future research in this area. Furthermore, the current landscape of targeted interventions for autonomic dysfunction is rapidly expanding; therefore, prioritizing patients who may benefit from such interventions or candidates for related clinical trials is paramount. Our scoping review details timely updates in the extant literature, including findings from recent studies on autonomic dysfunction in systemic sclerosis, and integrates these updates to identify critical gaps in the field.

Background: Systemic sclerosis is a chronic and rare connective tissue disease with multiorgan effects, including interstitial lung disease (ILD). Navigating systemic sclerosis-interstitial lung disease presents a challenge for patients due to the gaps in patient education, which can impact patient health and quality of life. This study utilized the nominal group technique to identify priority knowledge gaps among patients with systemic sclerosis-interstitial lung disease and inform future educational interventions and research.

Methods: We conducted four structured group sessions using the nominal group technique. Patients with systemic sclerosis-interstitial lung disease were presented with two questions that aimed to identify knowledge gaps. Following participant ranking, investigators performed a thematic analysis of the patients' responses to categorize the generated knowledge gaps.

Results: Twenty-one patients were interviewed and ranked the top three themes for the first question (What questions about your scleroderma-lung disease that you have keep you awake at night?), based on total points, as: (1) Understanding progression, its impacts on the body, and managing health changes (39.7%); (2) anticipating future symptoms and implementing strategies for management and coping (19.8%); and (3) employing and understanding non-pharmacological interventions and self-management strategies (17.5%). The top three themes for the second question (What information do you want about your scleroderma-lung disease that you cannot find?) ranked by total points were: (1) understanding progression, its impacts on the body, and managing health changes (41.3%); (2) navigating health system barriers (16.7%); and (3) research efforts toward treating scleroderma (10.3%).

Conclusions: Our study underscores the importance of understanding the educational needs of patients with systemic sclerosis-interstitial lung disease. Patient responses emphasize the need to comprehensively address concerns about disease management, coping with impacts on social life, and navigating the healthcare system. By addressing these multifaceted concerns, we can design and implement patient-centered education to empower patients through increased support.

Objectives: To evaluate (1) the association between nailfold capillaroscopy pattern and 5-year risk for incident interstitial lung disease and (2) the association between transition in nailfold capillaroscopy pattern and risk of incident interstitial lung disease.

Methods: Data of adult patients from the EUSTAR database fulfilling the ACR-EULAR criteria with a disease duration ⩽5 years, having a scleroderma pattern at nailfold capillaroscopy with high-resolution computed tomography confirmed absence of interstitial lung disease (i.e. baseline) was used. Interstitial lung disease-free survival was assessed for up to 5 years of follow-up with a Cox proportional hazards model stratified on nailfold capillaroscopy pattern at baseline. The association of annual transition in nailfold capillaroscopy pattern on the risk to develop interstitial lung disease was assessed with a mixed logistic regression analysis.

Results: Out of 771 eligible patients, 283 (37%) had an early pattern, 377 (49%) had an active pattern, and 111 (14%) had a late pattern. The Cox proportional hazard model including the identified confounders did not show an association between severity of nailfold capillaroscopy pattern at baseline and increased risk for interstitial lung disease during 5-year follow-up (hazard ratio (95 confidence interval; p value): 1.09 (0.86-1.39; 0.47)). The mixed logistic regression analysis revealed an increased annual risk for incident interstitial lung disease with increasing severity of capillaroscopic pattern (odds ratio (95% confidence interval); p value 3.76 (1.99-7.11; <0.01)).

Conclusion: Our study shows that worsening of nailfold capillaroscopy has a strong association with an increased annual risk to develop interstitial lung disease. Of note, a worse scleroderma pattern at nailfold capillaroscopy is not associated with the long-term risk to develop interstitial lung disease.

Aim: Systemic sclerosis is associated with significant morbidity and mortality. It remains unclear from the literature if there are differences between the subtypes of systemic sclerosis and the rate of hospitalization. Our study investigates the rates of all types of hospitalizations between limited and diffuse cutaneous systemic sclerosis.

Methods: Patients have been collected prospectively using the European Scleroderma Trials and Research Group database at the Waikato Hospital, and were screened for inclusion criteria. Data were collected retrospectively on hospitalizations (total, acute, elective and infusion-related) for all patients.

Results: Overall, 140 patients were included in the analysis with 84 (60.0%) with limited cutaneous systemic sclerosis, 40 (28.6%) with diffuse systemic sclerosis, 3 (2.1%) with systemic sclerosis sine scleroderma and 13 (9.3%) with overlap syndrome. The mean number of total hospitalizations in 12 months was 0.9 (SD 3.0) for patients with limited disease versus 1.7 (SD 3.0) for diffuse disease (p = 0.062). The mean number of acute hospitalizations in 12 months was 0.6 (SD 1.3) for limited and 1.2 (SD 2.4) for diffuse (p = 0.061). Patients with diffuse systemic sclerosis were more likely to be admitted for reasons relating to systemic sclerosis than patients with limited disease (p < 0.001).

Conclusion: Diffuse and limited systemic sclerosis subtypes appear to have similar rates of hospitalizations though there is a trend in favour of diffuse disease towards more total and acute hospitalizations. There are clear differences in causes of hospitalization between the two main subgroups.

Image-guided thermal ablation is an alternative treatment for non-small cell lung cancer and can be performed in patients for whom general anaesthesia is not desired or contraindicated. This minimally invasive treatment is a promising approach in patients with early-stage lung cancer who are considered inoperable due to comorbidities. This short report describes an improved thermal ablation technique that considers the complexity of treating lung carcinoma in scleroderma-associated interstitial lung disease.

Introduction: Evidence has demonstrated that autoimmune diseases tend to coexist at a higher rate than expected, reflecting a common pathogenic pathway. In this study, we investigate the co-occurrence of systemic sclerosis, systemic lupus erythematosus, and Sjogren syndrome in patients with type 1 and type 2 diabetes mellitus.

Methods: Our data were obtained using the 2019 Healthcare Cost and Utilization Project, and International Classification of Diseases, 10th Revision diagnosis codes were used to identify patients with systemic sclerosis, systemic lupus erythematosus, lupus nephritis, and Sjogren syndrome, as well as patients with type 1 and type 2 diabetes. We utilized Statistical Analysis System 9.4 for all analyses and included designated weight values to produce nationally representative estimates.

Results: The prevalence of systemic sclerosis among patients with type 1 diabetes mellitus and type 2 diabetes mellitus was significantly lower than that for the non-diabetes mellitus control group (0.0007% vs 0.09%, p-value = 0.0064 and 0.01% vs 0.07%, p-value < 0.0001), respectively. Similarly, there was a significant decrease in the prevalence of systemic sclerosis with lung involvement in patients with type 1 and type 2 diabetes mellitus, with a statically significant difference in type 2 diabetes mellitus versus nondiabetic group (0.001% vs 0.006%, p-value < 0.0001). We noted a similar pattern regarding the prevalence of systemic lupus erythematosus and lupus nephritis in patients with type 1 and 2 diabetes. Similarly, there was a significant decrease in the prevalence of Sjogren syndrome in patients with type 1 diabetes and type 2 diabetes.

Conclusion: The collected data demonstrates an inverse relation between some autoimmune connective tissue diseases and diabetes. This suggests that these diseases and diabetes mellitus may have different immune pathogenesis. There was also a significantly lower incidence of organ complications such as lupus nephritis and systemic sclerosis lung disease among patients with diabetes, suggesting that diabetes and treatment of diabetes may alter the clinical expression of these disorders.

Advances in pulmonary arterial hypertension therapies have led to improvements in the quality of life and survival for patients with idiopathic pulmonary arterial hypertension, but these trends have not uniformly translated to patients with systemic sclerosis-associated pulmonary arterial hypertension. In order to better understand the heterogeneity in treatment response and survival, we aimed to examine the histological and immunophenotypic differences between the systemic sclerosis-associated pulmonary arterial hypertension and idiopathic pulmonary arterial hypertension pulmonary vasculopathies. We performed a semi-quantitative lung morphometry-based analysis comparing sections obtained from systemic sclerosis-associated pulmonary arterial hypertension (n = 24), idiopathic pulmonary arterial hypertension (n = 9), and control (n = 13) bio-banked lung tissue specimens. H&E (Hematoxylin and Eosin) and VVG (Verhoeff-Van Gieson)-stained lung sections were analyzed for interstitial and vascular pathology. Immunohistochemistry was used to stain for an array of inflammatory and fibrosis mediators. Baseline demographic and hemodynamic data for each patient were collected via chart review at the time of lung explantation. Plexiform lesions were present in 5/9 (55%) of idiopathic pulmonary arterial hypertension samples, but absent in all systemic sclerosis-associated pulmonary arterial hypertension samples (0/24). Systemic sclerosis-associated pulmonary arterial hypertension lungs demonstrated significantly worse interstitial fibrosis (p = 0.0001) and interstitial cellularity (p = 0.0002) compared to idiopathic pulmonary arterial hypertension lungs. The degree of smooth muscle hypertrophy and pulmonary artery intimal proliferation were not different between systemic sclerosis-associated pulmonary arterial hypertension and idiopathic pulmonary arterial hypertension lungs. Immunohistochemistry analysis revealed that systemic sclerosis-associated pulmonary arterial hypertension lungs exhibited increased interstitial infiltration of CD3 T-cells (p = 0.009), CD20 B-cells (p = 0.01), and CD163 macrophages (p = 0.048) when compared to idiopathic pulmonary arterial hypertension and control lungs. Systemic sclerosis-associated pulmonary arterial hypertension lungs display a distinct pulmonary vascular pathology as well as significant interstitial fibrosis when compared to idiopathic pulmonary arterial hypertension lungs.

Objective: People with systemic sclerosis (SSc or scleroderma), a rare chronic autoimmune disease, often face significant physical and emotional challenges. Peer mentoring, where someone with similar lived experiences offers guidance and support, shows promise in enhancing the well-being of recipients and may benefit individuals with systemic sclerosis. This study aims to evaluate the feasibility and potential health effects of peer mentoring through a digital platform for people with systemic sclerosis.

Methods: We conducted a one-group study to evaluate a 16-week peer mentoring program for people with systemic sclerosis. Mentors and mentees were matched by demographics and systemic sclerosis characteristics. Feasibility was evaluated using Orsmond and Cohn criteria: recruitment, data collection, acceptability, available resources, and participant responses to the program. Perceptions and usability of the peer mentoring program through a digital platform were assessed at week 16 (post-program). The health effects of peer mentoring were measured at baseline, week 8, and week 16.

Results: Five trained mentors and 15 mentees were enrolled. Each mentor was paired with 2-4 mentees. We found that peer mentoring through a digital platform was feasible, acceptable, and had good usability for both mentors and mentees. Mentees reported significantly less anxiety at week 16 (p < 0.001). Other improvements in fatigue, pain interference, depressed mood, and resilience were observed, but did not reach statistical significance.

Conclusion: The peer mentoring program through a digital platform was well-received. Results provided preliminary support for the feasibility and potential health benefits of peer mentoring to enhance well-being in people with systemic sclerosis. Findings lay the groundwork for future peer mentoring research in systemic sclerosis.

Introduction: In several rheumatic diseases, the skin is involved and therefore it is an organ of interest which may be investigated by the rheumatologist. Ultrasound imaging has been proposed for assessing multiple skin conditions providing qualitative and quantitative information about different parameters in distinct skin layers. Our aim was to describe with a pictorial essay the main challenges that the ultrasound imaging may encounter when investigating the healthy skin in different body areas.

Subjects and methods: Fourteen healthy subjects were submitted to skin ultrasound. The body areas that were investigated were decided following the 17 modified Rodnan skin score anatomical areas used in systemic sclerosis. Skin ultrasound was performed with a GE Logiq 10 with two probes (20 and 24 MHz). For an optimal quantification of the skin layers, the dermis interfaces either with the epidermis and hypodermis were investigated.

Results: The results of the ultrasound analysis are described and summarized in a pictorial essay which shows that some main factors may significantly influence the quality of the images of the skin layers. Specifically, age, scanning position, probe frequency, and the optimal positioning of some anatomical areas, in particular the hands and digits, emerged as factors that may have a relevance in influencing the quality of the imaging of the skin layers. Moreover, some technical suggestions are proposed to help optimizing and standardizing the performance of skin ultrasound assessment in healthy population.

Conclusion: The pictorial essay we performed shows that the performance of skin ultrasound in healthy subjects still presents several issues that need to be addressed. The definition of the interface in different body areas is the first step which should be standardized before any measurement of the thickness of the skin layers is performed in rheumatic diseases.

Objective: Juvenile-onset systemic sclerosis (jSSc) is a rare and life-threatening disease with no formal studies evaluating the indications for, access to, or benefits of autologous stem cell transplantation (ASCT). As a first step toward understanding pediatric jSSc specialist thoughts and experiences with ASCT, we conducted a multinational survey.

Methods: An electronic survey was developed and distributed in November 2023 to members of the Pediatric Rheumatology European Society (PRES) and/or Childhood Arthritis and Rheumatology Research Alliance (CARRA) pediatric scleroderma workgroups.

Results: Twenty-nine (69%) jSSc specialists completed the survey. All participants have considered or would consider ASCT referral for a jSSc patient. Nearly all respondents indicated disease-modifying anti-rheumatic drugs (DMARDs) should be trialed prior to ASCT referral, with most indicating two to four DMARDs. The most common reasons selected for referral were rapidly progressive disease (despite DMARD) (90%), followed by severe disease status (83%), and significant impact on quality of life (83%). All respondents selected pulmonary disease as an indication for referral, followed by cardiac (93%), gastrointestinal (72%), and skin disease (66%). While pulmonary and cardiac involvement were considered individually sufficient for referral for ASCT, only a minority considered musculoskeletal involvement (28%) sufficient on its own.

Conclusion: This survey is the first explore thoughts and experience with ASCT for jSSc. Results indicate pediatric rheumatologists were aware of and would consider ASCT for their patients. Our results indicate there is likely some variability in clinical practice regarding who is referred for ASCT, and further research is needed to guide development of evidence-based clinical care guidelines.