Diagnosis of familial hypercholesterolemia: a work in progress

Purpose: An ICD-10 code for Familial Hyperchole sterolemia (FH), E78.01, became effective October 2016 following a proposal in 2013 to the ICD-10 Coordination and Maintenance Committee by the Family Heart Foundation. The code differentiated FH from other forms of elevated cholesterol, signaling the need for differential diagnosis of a condition in which management in the first two decades of life can substantially reduce the burden of aggressive atherosclerosis. This study aims to characterize the % of FH patients diagnosed with E78.01 in an expansive, real-world US dataset. Method(s): The Family Heart DatabaseTM includes diagnostic/ procedural/prescription data from claims and/or laboratory data for >300 million individuals from the US who were screened or treated for any form of cardiovascular risk. This analysis dataset includes 197 million people, including 22 million children, with diagnostic data from October 2016 through June 2020. The number of total (diagnosed + undiagnosed) FH patients within the dataset was estimated assuming an occurrence of 1:250 individuals. Patients with FH (E78.01) were counted if the diagnostic code was applied for a single in-patient claim or at least twice, >7 days apart, for an out-patient claim. Result(s): The number of patients diagnosed with FH using E78.01 has increased substantially since 2016. During 2017 and 2018, use of the code was brisk and likely included previously and newly diagnosed individuals. Diagnosis was reduced dramatically with the onset of the COVID-19 pandemic corresponding with the marked reduction of in-person clinic visits and near halting of preventive care. By June 2020, 246,689 patients were diagnosed with FH representing 31.3% of the estimated total (diagnosed + undiagnosed) FH population of 787,886 within the dataset. Compared with all individuals in the analysis dataset, those diagnosed with FH were substantially more likely to have atherosclerotic cardiovascular disease (40% versus 8%). Conclusion(s): Prior to 2016, an estimated <1% of patients with FH in the US were diagnosed, but without an ICD code it was impossible to track. The number of patients diagnosed with FH (E78.01) has increased substantially since 2016. Within this large, real-world dataset of Americans, 31.3% of the estimated FH population had been diagnosed as of June 2020. However, despite clear screening guidelines, effective therapies, and classification of FH as a public health threat by the World Health Organization, most of the FH population remains undiagnosed, leaving these genetically vulnerable individuals at high risk for premature cardiovascular disease.

Diversity of Cardiology Fellowship Candidates in the Era of Virtual Interviews

Introduction: The goal of cardiovascular training programs is to increase recruitment of women and underrepresented in medicine (UIM) trainees. Due to the COVID-19 pandemic, virtual interviewing replaced in-person interviewing for cardiology fellowship applications in the United States. However, there is little data on the influence of these changes on fellowship candidate diversity. Method(s): In a single-center retrospective study, we identified demographic changes in the profiles of trainees who interviewed for the Stanford University Cardiovascular Fellowship Program before and after the transition to virtual interviewing (2019 and 2020 vs 2021 and 2022 cycles). UIM applicants were defined as those who self-identified Black or Hispanic. Test of proportions and t-test were used for categorical and numeric variables respectively. Result(s): Over four years, 2250 trainees applied, 212 candidates interviewed, and 24 were accepted to the fellowship. Of those interviewed, 42.0% were women, 9.9% were Black, and 9.4% were Hispanic. The proportion of UIM trainees interviewed increased from 10.5% during the in-person years to 30.2% during the virtual years (p < 0.001;Figure 1A). The increase among women was not statistically significant (40% in-person vs. 44% virtual, p = 0.58). The geographic distribution shifted over time to include lower representation from closer Western programs (40% in-person to 29% virtual) and higher representation from Northeast programs (35% in-person to 44% virtual;Figure 1B). The weighted mean distance of represented residency programs nominally increased from 1730 miles to 2067 miles away (p = 0.06). Conclusion(s): Virtual interviews were associated with a three-fold increase in UIM interviewed applicants for cardiology fellowship positions at a single center. Further research is warranted to assess the full impact of virtual interviews, as well as to understand and mitigate potential bias in the evolving selection process.

Integrating a diabetes service within the Adult Cystic Fibrosis Service at Blackpool Victoria Hospital, UK

Objectives: In 2018 a new Adult Cystic Fibrosis Diabetes (CFD) servicewas established within the Blackpool Victoria Hospital Adult Cystic Fibrosis Service (BACFS). Over 3 years the number of patients in the BACFS has increased, reflecting an increase in patients with CFD requiring more diabetes specialist time (see table). Demands on the service were further impacted during the COVID-19 restrictions;however, this also inadvertently enhanced engagement between patients and the CFD service. Methods: 1. Designated CFD Clinics 2. Annual review 3. Policies and resources 4. Ongoing education of patients and clinicians (Table Presented) Results: 1. Designated clinics 2 Weekly CFD multidisciplinary team (MDT) review including Libre View discussions, new & transition patient clinics, follow-up clinic alternating with 2 weekly nurse-led clinics All patients with CFD have a Libre sensor fitted and share data 2. Annual review Due to COVID-19 restrictions, Libre view used for screening of CFD 2 weekly CFD MDT meeting to discuss Libre View data Discussion at CFD MDT re: diagnosis & treatment 3. Policies and resources Local and National protocols followed to screen for CFD and initiate early treatment Established resources for new patients starting insulin 4. Ongoing education of patients and clinicians Upskilled CF team regarding CFD annual review Contribute to journal club, local meetings and education for other specialities Joint working agreement with antenatal service at BVH Conclusion: There have been challenges to establish a CFD service around staffing hours, accommodation and cross cover. COVID-19 had further impacted this but the introduction of virtual working has increased patient contact without the need for face-to-face consultations. Further development is centred on working with local paediatric centres for the transition of patients and introduction of virtual, structured group education.

The role of Flash Glucose Monitoring System at annual review during the COVID-19 restrictions, within Cystic Fibrosis Diabetes Service at Blackpool Adult Cystic Fibrosis Centre, UK

Objectives: The gold standard of care for diagnosing Cystic Fibrosis-Related Diabetes (CFRD), as recommended by CF Trust and American Diabetes Association guidelines (Bridges et al., 2018), is to use the Oral Glucose Tolerance Test (OGTT). Flash Glucose Monitoring System (FGMS) was introduced for CF patients, shielding due to COVID-19, as part of their CF annual review (A/R) alongside chest status, weight and HbA1c. Methods: • A/R information sheet outlining reason for using FGMS and sharing data agreement via Libre View. • Video consultation with Dietitian/CF Diabetes Nurse to discuss and support insertion of Libre sensor and link to sharing data. • Patients completed 2 weeks of daily scanning and food diary. • 2 weekly CFRD MDT data analysis, using the Brompton CGM criteria for CFRD diagnosis (see table 1). [Table presented] Results: • Good uptake of CFRD screening process. • 13 patients screened with FGMS (see table 2). • Monitoring of glucose against timely food diary, using Libre View App. • FGMS has identified patients with impaired glucose handling that may have been missed on OGTT. • Patients able to observe effect of food on blood glucose levels. [Table presented] Conclusion: Using the FGMS has enhanced patient's compliance with A/R screening for CFRD. The FGMS has identified early diagnosis of patients with CFRD and patients with delayed insulin response leading to effective insulin treatment and appropriate dietary changes. Feedback to the patient following A/R has been quicker and more efficient due to video consultations and the sharing of glucose results and food diary via the App and Libre View sharing agreement. The role of FGMS at annual review allows closer analysis of glucose trends which otherwise would have been missed on the OGTT screening.