Diagnosis and management of systemic mastocytosis in a community hematology setting.

BACKGROUND: Systemic mastocytosis (SM) is a rare and potentially severe hematologic disorder characterized by the clonal proliferation of mast cells (MCs) into various organs. The clinical manifestations of advanced SM are caused by the uncontrolled release of cytokines and vasoactive amines from MC and disease-induced organ dysfunction. Patients with SM typically present with symptoms such as flushing, pruritus, diarrhea, and headaches, but outcomes following active treatment have not been well characterized. In this study, the clinical characteristics, treatment patterns, and natural history of an SM patient cohort diagnosed and treated within a community hematology network in the United States is described. METHODS: We identified 105 patients who were diagnosed and managed in one of 19 community hematology clinics up to an index date of 1 October 2022. Data collection included patient and disease characteristics, baseline biochemistry and hematology, SM diagnostic criteria being met, biomarkers tested, CD2 and/or CD25 expression in MCs as well as serum tryptase levels at presentation. Data abstraction also included supportive care drugs and anticancer therapy used, treatment response, reason for discontinuation, and overall survival by disease subtype. RESULTS: A total of 105 SM patients were identified who met the inclusion criteria. The specific SM subtypes were indolent (47.6%), aggressive (9.5%), SM with an associated hematological neoplasm (19.0%), MC leukemia (1.9%), and subtype not documented (21.9%). Regardless of subtype, approximately 62% of patients did not receive SM-directed active therapy. Only 26% of patients with indolent systemic mastocytosis (ISM) received treatment compared to 65.6% with advanced subtypes. Relative to ISM cohort, the relative risk of death in patients with the advanced SM subtypes was approximately 15 times greater (hazard ratio = 15.0; 95% confidence interval: 3.3 to 66.5). CONCLUSIONS: SM patients present with multiple underlying symptoms, within various disease subtypes that are difficult to diagnose in a timely manner. As a result, many patients do not receive active drug therapy for their disease. Therefore, greater disease awareness is required as well as new tools for earlier disease detection.

MASTering systemic mastocytosis: Lessons learned from a large patient cohort.

Background: Systemic mastocytosis (SM), a rare condition affecting about 32,000 individuals in the United States, is often misdiagnosed or underdiagnosed owing to its nonspecific symptoms and the need for invasive biopsies. Objective: Our aim was to identify, classify, and characterize the natural history of patients with SM. Methods: In a retrospective cohort study, administrative data from a large managed care organization was used to identify patients with confirmed SM, based on World Health Organization criteria. Demographic data, delay to diagnosis, disease progression, and health care resource utilization were examined. Results: Of 116 patients with confirmed SM, 77% had indolent SM, 2% had smoldering SM, 12% had SM with associated hematologic neoplasm, 9% had aggressive SM, and none had mast cell leukemia. In all, 5 patients were misclassified as having a less advanced SM subtype initially and 3 were completely undiagnosed (missed diagnosis). The average delay to diagnosis of SM was 58.3 plus or minus 73.1 months. In all, 18% of patients progressed from a nonadvanced form of SM (indolent or smoldering SM) to an advanced form of SM (aggressive SM, SM with associated hematologic neoplasm, or mast cell leukemia) over an average of 88.3 plus or minus 82.7 months. Patients with SM had increased health care utilization, including increases in their numbers of hospital admissions, emergency room visits, urgent care visits, and specialty provider visits, after diagnosis versus before. Conclusions: Rare diseases such as SM would benefit from increased understanding and awareness to improve diagnostic accuracy. Prospective studies are needed to better characterize this patient population and determine the type of follow-up needed to recognize advanced forms of SM so that appropriate treatment can be implemented.

Relationship of COPD Exacerbation Severity and Frequency on Risks for Future Events and Economic Burden in the Medicare Fee-For-Service Population.

Purpose: To quantify the effects of moderate and/or severe chronic obstructive pulmonary disease (COPD) exacerbations on future exacerbations and healthcare costs in Medicare Fee-For-Service beneficiaries. Patients and Methods: A retrospective cohort study of patients ≥40 years of age, with continuous enrollment from 2015 to 2018, with an index COPD diagnosis defined as first hospitalization, emergency department visit, or first of two outpatient visits (≥30 days apart) in 2015 with a claim for chronic bronchitis, emphysema, or chronic airway obstruction. Patients were stratified by baseline exacerbation categories in year one (YR1) and subsequently evaluated in YR2 and YR3: (A) none; (B) 1 moderate; (C) ≥2 moderate; (D) 1 severe; and (E) ≥2, one being severe. Moderate exacerbations were defined as COPD-related outpatient/ED visits with a corticosteroid/antibiotic claim within ±7 days of the visit and severe exacerbations as hospitalizations with a primary COPD diagnosis. Total all-cause costs for Categories B-E were compared to reference Category A using generalized linear models and inflation adjusted to 2019 dollars. Results: A total of 1,492,108 patients met study criteria with a mean (±SD) age of 70.9±10.9. In YR1, nearly 40% of patients experienced ≥1 moderate and/or severe exacerbations. Patients having multiple exacerbations, regardless of severity were 2-4 times more likely to experience an exacerbation during YR2 and YR3. Adjusted costs ranged between $24,000 and $26,600 for all categories for YR2 and YR3. Adjusted YR2 costs for Category D and E were $1421 and $1548 higher than those without an exacerbation (Category A YR2 $25,084, YR3 $24,282; p<0.0001). The respective YR3 adjusted costs were $2062 and $2117 higher than those without an exacerbation (Category A; p<0.0001), representing an increase of 6-8% and 8-9% for YR2 and YR3. Conclusion: Medicare patients with recent moderate or severe exacerbations, or at least two exacerbations per year are at significant risk for future exacerbations and incur higher all-cause costs.

Eye-tracking retrospective think-aloud as a novel approach for a usability evaluation.

OBJECTIVE: To report on the use of an eye-tracking retrospective think-aloud for usability evaluation and to describe its application in assessing the usability of a mobile health app. MATERIALS AND METHODS: We used an eye-tracking retrospective think-aloud to evaluate the usability of an HIV prevention mobile app among 20 young men (15-18 years) in New York City, NY; Birmingham, AL; and Chicago, IL. Task performance metrics, critical errors, a task completion rate per participant, and a task completion rate per task, were measured. Eye-tracking metrics including fixation, saccades, time to first fixation, time spent, and revisits were measured and compared among participants with/without a critical error. RESULTS: Using task performance analysis, we identified 19 critical errors on four activities, and of those, two activities had a task completion rate of less than 78%. To better understand these usability issues, we thoroughly analyzed participants' corresponding eye movements and verbal comments using an in-depth problem analysis. In areas of interest created for the activity with critical usability problems, there were significant differences in time spent (p = 0.008), revisits (p = 0.004), and total numbers of fixations (p = 0.007) by participants with/without a critical error. The overall mean score of perceived usability rated by the Health IT Usability Evaluation Scale was 4.64 (SD = 0.33), reflecting strong usability of the app. DISCUSSION AND CONCLUSION: An eye-tracking retrospective think-aloud enabled us to identify critical usability problems as well as gain an in-depth understanding of the usability issues related to interactions between end-users and the app. Findings from this study highlight the utility of an eye-tracking retrospective think-aloud in consumer health usability evaluation research.

A Mobile Health Intervention for HIV Prevention Among Racially and Ethnically Diverse Young Men: Usability Evaluation.

BACKGROUND: Mobile health (mHealth) apps have the potential to be a useful mode of delivering HIV prevention information, particularly for young men (13-24 years) who account for 21% of new HIV diagnoses in the United States. We translated an existing evidence-based, face-to-face HIV prevention curriculum into a portable platform and developed a mobile Web app: MyPEEPS Mobile. OBJECTIVE: The purpose of this study was to assess the usability of MyPEEPS Mobile from both expert and end user perspectives. METHODS: We conducted a heuristic evaluation with five experts in informatics to identify violations of usability principles and end user usability testing with 20 young men aged 15 to 18 years in New York, NY, Birmingham, AL, and Chicago, IL to identify potential obstacles to their use of the app. RESULTS: Mean scores of the overall severity of the identified heuristic violations rated by experts ranged from 0.4 and 2.6 (0=no usability problem to 4=usability catastrophe). Overall, our end users successfully completed the tasks associated with use case scenarios and provided comments/recommendations on improving usability of MyPEEPS Mobile. The mean of the overall Post-Study System Usability Questionnaire scores rated by the end users was 1.63 (SD 0.65), reflecting strong user acceptance of the app. CONCLUSIONS: The comments made by experts and end users will be used to refine MyPEEPS Mobile prior to a pilot study assessing the acceptability of the app across diverse sexual minority young men in their everyday lives.

Adaptation of a Group-Based HIV RISK Reduction Intervention to a Mobile App for Young Sexual Minority Men.

There is a dearth of evidence-based HIV prevention interventions for very young men who have sex with men (YMSM) ages 13-18 years, at high risk for HIV. We adapted the MyPEEPS intervention-an evidence-based, group-level intervention-to individual-level delivery by a mobile application. We used an expert panel review, in-depth interviews with YMSM (n = 40), and weekly meetings with the investigative team and the software development company to develop the mobile app. The expert panel recommended changes to the intervention in the following areas: (1) biomedical interventions, (2) salience of intervention content, (3) age group relevance, (4) technical components, and (5) stigma content. Interview findings reflected current areas of focus for the intervention and recommendations of the expert panel for new content. In regular meetings with the software development firm, guiding principles included development of dynamic content, while maintaining fidelity of the original curriculum and shortening intervention content for mobile delivery.