Sandorfi, Nora

Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included. PtGA and PhGA (0–10 scale), clinical evaluations, and patient‐reported outcomes (PROs) were collected every six months. Multivariable mixed‐effects linear regression identified factors associated with PtGA and PhGA using (1) clinical variables and (2) clinical variables plus PROs. Relative weight analysis (RWA) determined the relative importance of each variable. Discordance (≥2 points between PtGA and PhGA) was assessed using multinomial mixed‐effects logistic regression. Results Among 956 patients (83% women, 33% limited disease), mean PtGA and PhGA at enrollment were 4.2 (SD 2.6) and 3.4 (SD 2.0), respectively ( P < 0.001). RWA of clinical variables identified modified Rodnan skin score (mRSS) and New York Heart Association (NYHA) functional class as most influential for both global assessments. After including PROs, PtGA was most influenced by measures of pain, skin symptoms, and physical function. Discordance occurred in 53% of patients (35% PtGA worse, 18% PhGA worse). Worse PtGA was associated with higher overall pain and discomfort. Worse PhGA was associated with higher mRSS, worse NYHA class, higher pain interference, and lower diffusing capacity of the lung. Conclusion Discordance between PtGA and PhGA occurs commonly, highlighting the need for comprehensive symptom management and measurement of disease burden in this complex disease. In SSc, differences in PtGA and PhGA reflect dissimilar weighting of data elements.

Abstract Introduction: Warm autoimmune hemolytic anemia (wAIHA) is a rare, life-threatening, relapsing, autoantibody-driven disease associated with a significant physical, emotional, and quality of life burden on patients and caregivers. In rare diseases like wAIHA, patients more often rely on publicly available online disease information to improve their health literacy, however available data and educational resources on the internet are often limited. Rapidly evolving technology has led to a rise in patients and care partners utilizing online digital health resources to gather information and seek support. Developing patient-facing educational materials in collaboration with the end user may help increase utilization and engagement, which would facilitate improving patient health. This qualitative patient research aimed to gather feedback from individuals living with wAIHA on creative concepts for a disease state education website and to gain insight on proposed content areas for the educational resource. Methods: A wAIHA patient council was convened to better understand the perspective of individuals living with wAIHA. US-based adults with a self-reported diagnosis of wAIHA who were members of the patient council participated in a 2-hour virtual focus group to discuss a wAIHA disease state education website concept and provide insight into potential gaps in patient education. Participants were permitted to provide feedback in an online questionnaire as an alternative to joining the session. The session focused on reviewing the website design concept and four proposed content areas. Focus group discussions were audio-recorded and transcribed. Transcripts were qualitatively analyzed to identify key themes and insights. Results: Four individuals living with wAIHA participated in the virtual focus group and one gave feedback via the online survey. Most participants were female (80%) and White (60%). Participants expressed an unmet need for a reliable and easy to understand educational website that could be utilized by patients, care partners, and their loved ones throughout the wAIHA journey. The most important information for the wAIHA educational website, as identified by participants, included disease state information (ranging from basic disease explanations/definitions to comprehensive data on the disease), resources for patient support groups, and patient testimonials. Proposed content areas included suspected wAIHA, understanding wAIHA, living with wAIHA, and resources and support; these were all deemed valuable by participants. They recommended enhancements like creating a dedicated section for family and care partners, offering guidance on parenting with wAIHA, and providing further explanations of disease-related terms and resources. Insights gathered on the initial website design concept provided actionable changes to content such as alternative imagery to emphasize the wAIHA community and refinement of text to reinforce the website as a guiding tool for patients and care partners. Participant feedback was incorporated into the final concept resulting in a patient-centered digital resource. Conclusions: Including perspectives of individuals living with wAIHA in the development of patient-facing educational resources is key to creating impactful tools for the intended user. Insights collected from this exploratory research directly contributed to the improvement of the concept for a wAIHA disease state education website, making it more engaging and impactful. This research demonstrates the value of focus groups in gaining insight into patient preferences for educational resources and guiding their development to be customized for the end user.

Objective Raynaud phenomenon (RP) is often the initial clinical manifestation of systemic sclerosis (SSc), but some patients develop other manifestations first. To help elucidate the diversity of SSc presentation in its early stages, we describe the initial clinical manifestations and antinuclear antibody (ANA) profiles of patients in two early SSc cohorts. Methods All patient data in the Genetics vs Environment in Scleroderma Outcomes Study (GENISOS) and Collaborative National Quality and Efficacy Registry (CONQUER) cohorts were reviewed. Both studies enrolled patients within five years of the first non‐RP symptom. Results In GENISOS and CONQUER, respectively, 194 (44.2%) of 439 and 292 (31.1%) of 938 patients had a non‐RP initial symptom, most commonly puffy fingers/hands. Black patients had a non‐RP symptom before RP more commonly than patients in other race and ethnicity categories. Non‐RP first patients were more likely than RP first patients to have diffuse cutaneous involvement and joint contractures at enrollment and had a higher prevalence of RNA polymerase III antibody positivity. Conclusion In two large US cohorts, >30% of patients began to manifest SSc with puffy fingers/hands or other symptoms, without the “warning sign” of RP as their initial symptom. These patients presented with more severe skin and musculoskeletal disease on average, highlighting the importance of early recognition. The most common autoantibody associated with this presentation was RNA polymerase III. These results should be considered in efforts to recognize SSc in its earliest stages. Puffy fingers/hands, even in the absence of RP, should prompt consideration of early SSc and testing for ANA and SSc‐associated autoantibodies, including RNA polymerase III.

Abstract Objectives SSc is associated with increased health-care resource utilization and economic burden. The Collaborative National Quality and Efficacy Registry (CONQUER) is a US-based collaborative that collects longitudinal follow-up data on SSc patients with &lt;5 years of disease duration enrolled at scleroderma centres in the USA. The objective of this study was to investigate the relationship between gastrointestinal tract symptoms and self-reported resource utilization in CONQUER participants. Methods CONQUER participants who had completed a baseline and 12-month Gastrointestinal Tract Questionnaire (GIT 2.0) and a Resource Utilization Questionnaire (RUQ) were included in this analysis. Patients were categorized by total GIT 2.0 severity: none-to-mild (0–0.49); moderate (0.50–1.00), and severe-to-very severe (1.01–3.00). Clinical features and medication exposures were examined in each of these categories. The 12-month RUQ responses were summarized by GIT 2.0 score categories at 12 months. Results Among the 211 CONQUER participants who met the inclusion criteria, most (64%) had mild GIT symptoms, 26% had moderate symptoms, and 10% severe GIT symptoms at 12 months. The categorization of GIT total severity score by RUQ showed that more upper endoscopy procedures and inpatient hospitalization occurred in the CONQUER participants with severe GIT symptoms. These patients with severe GIT symptoms also reported the use of more adaptive equipment. Conclusion This report from the CONQUER cohort suggests that severe GIT symptoms result in more resource utilization. It is especially important to understand resource utilization in early disease cohorts when disease activity, rather than damage, primarily contributes to health-related costs of SSc.