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Department of Defense. Cascade (family) screening can identify undiagnosed individuals with Familial Hypercholesterolemia (FH). Worldwide, the most effective model for cascade screening was a centralized model in the Netherlands in which a coordinating center notified eligible relatives of a need for cascade screening following a FH diagnosis in the family. As part of the DIrect SCreening Of RelatiVEs to Reveal FH (DISCOVER FH) project, we will adapt this model with the Family Heart Foundation serving as the coordinating center. Barriers and facilitators for implementing such a model in the US remain unclear. To understand perspectives about a centralized FH cascade screening model to inform how such a model should be adapted to the US context. We conducted patient (n=20) and provider (n=10) interviews by telephone between January-September 2023. Interviews lasted 45-60 minutes, the semi-structured interview guides were informed by the Consolidated Framework for Implementation Research. All interviews were recorded, transcribed, reviewed, and analyzed using Dedoose. Among participating patients, 70% identified as White and 20% as Black and received care at lipid specialty clinics at the North Texas VA (n=9), UT Southwestern Medical Center (n=8) or Parkland Health and Hospital Systems (n=3). Participating providers were experienced in the care of FH patients and included genetic counselors (n=2), cardiologists (n=2), endocrinologists (n=2), primary care (n=1), and mid-level providers (n=3) across academic, VA, and other settings. We identified multilevel anticipated barriers to a centralized cascade screening model. For families, barriers included structural barriers (costs of possible treatment, geographic), competing demands, cognitive abilities, language barriers, family dynamics, psychosocial characteristics (trust, low perceived threat, avoidance), lack of a regular source for healthcare, and genetic privacy concerns. For providers, barriers included lack of knowledge and self-efficacy related to cascade screening and genetic testing, competing demands, and low relative priority. For practices, barriers included legal considerations and capacity. To address these barriers, patients and providers recommended: 1) getting buy-in from probands, providers, and clinics; 2) increasing medical student, provider and patient knowledge about cascade screening, treatment for FH, genetic privacy, and costs; 3) developing resources for relatives to share with healthcare providers; 4) tracking data; and 5) connecting families to social support. We identified key needs for families, providers and practices that should be addressed in the implementation of a centralized FH cascade screening model. These data will inform the implementation of a centralized cascade screening model in the US. [ABSTRACT FROM AUTHOR]

Ionis Young Investigators Award. Few attempts at community-based screening have been made for triglyceride levels, which has the potential to identify individuals at risk for cardiovascular disease as well as acute hypertriglyceridemic pancreatitis. One opportunity for such screening is among blood donors. Demonstrate feasibility of measuring non-fasting triglyceride level in blood donors. We prospectively measured non-fasting triglyceride levels (Beckman Coulter assay, California) among volunteer blood donors at Carter BloodCare North Texas over 3 weeks from December 2023 to January 2024. Donor self-reported demographic data included age, gender, ethnicity/race and BMI. Blood pressure and total cholesterol level were checked per routine protocol at Carter BloodCare. Per the 2021 ACC expert consensus on management of hypertriglyceridemia, non-fasting triglyceride levels were stratified into normal <175 mg/dL, moderate 175-499 mg/dL, and severe >500 mg/dL hypertriglyceridemia. Results reported as median (IQR). 10,175 unique blood donors had a triglyceride level measured [35.2% female, age 53 years (42-62), BMI 29.4 (26-33), 71.6% White]. Additionally, 98 individuals donated multiple times [first triglyceride 141 mg/dL (99-198), second triglyceride 142 mg/dL (103-205), interpersonal absolute change in triglyceride +/- 39.5 mg/dL (17-86)]. Among unique donors, triglyceride levels ranged from 23-2342 mg/dL (median 154 mg/dL, mean 185 mg/dL). Of note, 7 donors had triglycerides >1000 mg/dL (min 1051- max 2342). Overall, 58.4% had normal triglycerides [triglyceride 111 mg/dL (84-140), 41.6% female, age 52 years (40-62), BMI 28.4 (25-32), 71.7% White; 16.9% elevated blood pressure, total cholesterol 169 mg/dL (146-193)]; 39.2% had moderate hypertriglyceridemia [triglyceride 243 mg/dL (204-309), 26.8% female, age 53 years (43-61), BMI 30.5 (27.4-34.2), 71.8% White, 21.9% elevated blood pressure, total cholesterol 181 mg/dL (156-206)]; 2.4% severe hypertriglyceridemia [triglyceride 582 (539-705), 17% female, age 52 years (44-59), BMI 30.9 (28-35), 67.5% White, 27.6% elevated blood pressure, total cholesterol 209 mg/dL (178-235)]. Triglyceride levels were associated with male gender (p < 0.001), high blood pressure (p < 0.001), high cholesterol (p < 0.001), and Hispanic ethnicity (p<0.001). Our pilot study demonstrates the feasibility of non-fasting community-based screening for hypertriglyceridemia among volunteer blood donors. Such efforts can rapidly screen triglycerides in many individuals. Furthermore, such screening has the potential to identify individuals at risk for cardiovascular disease (moderate hypertriglyceridemia) and acute pancreatitis (severe hypertriglyceridemia). Future efforts will explore donors' understanding of triglycerides, identification of their risk factors for hypertriglyceridemia, along with the need for education and a pathway for their care. [ABSTRACT FROM AUTHOR]

This study was sponsored by Ionis Pharmaceuticals. Familial chylomicronemia syndrome (FCS) is an ultrarare, inherited disorder caused by impaired lipolysis leading to pathological accumulation of chylomicrons with severe hypertriglyceridemia (HTG) and systemic manifestations, the most serious of which is acute pancreatitis. FCS is challenging to manage, with lifelong implications for patients and their care providers. Genetic testing is the standard to confirm diagnosis but is not always feasible. Clinical FCS can be defined as both classical (autosomal recessive monogenic) and functional (signs/symptoms and biochemical traits of classical FCS without the classical variants or indeterminate genetic results). In 2017, European clinicians (Moulin et al.) developed a "FCS score" to differentiate between FCS and multifactorial chylomicronemia syndrome (MCS), a more common condition with some overlapping features. However, the applicability of this scoring system to North American FCS patients is unclear. Develop a clinical diagnostic score for North American practice patterns based on signs/symptoms and biochemical traits of FCS, regardless of genetic testing results. The panel (9 United States and 1 Canadian physician with experience treating patients with FCS; 1 adult patient with FCS) followed the RAND/UCLA modified Delphi process by reviewing evidence on the diagnosis of FCS and developing 248 clinical scenarios of patients with varying characteristics such as age, triglyceride (TG) levels, and clinical history. Before and after a virtual meeting, panelists rated whether patients described in scenarios were likely to have classical or functional FCS or neither. Median post-meeting ratings were used to conduct linear regression analyses to develop a Clinical FCS Score. We assessed the score's face validity by totaling the Clinical FCS Score for each scenario and are calculating its sensitivity and specificity in a registry of patients. The final FCS score included age, HTG onset, body mass index, history of abdominal pain/pancreatitis, presence of secondary factors contributing to HTG, TG levels, ratio of TG/total cholesterol, and apolipoprotein B level (Figure). Experts agreed that scores ≥60 could be considered "Clinical FCS." We developed the first North American Clinical FCS Score that used a combination of signs/symptoms and biochemical traits. This score may aid clinicians in diagnosing patients with FCS who might otherwise be undiagnosed or misdiagnosed. [ABSTRACT FROM AUTHOR]