{"title":"Role of cascade genetic testing for the diagnosis and management of familial hypercholesterolemia: A case of compound heterozygous sitosterolemia","authors":"Gary Balady MD, Frank Qian MD","doi":"10.1016/j.jacl.2025.04.042","DOIUrl":"10.1016/j.jacl.2025.04.042","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Inherited sitosterolemia is a rare genetic condition that affects an estimated 1 in 50,000 individuals world-wide. It is caused by loss-of-function variants in the adenosine triphosphate-binding cassette genes G5 or G8 (ABCG5/G8) and leads to marked uptake of plant sterols, which can result in hypercholesterolemia and premature atherosclerosis.</div></div><div><h3>Objective/Purpose</h3><div>Describe the importance of cascade genetic testing in confirming the diagnosis of inherited sitosterolemia.</div></div><div><h3>Methods</h3><div>Literature and medical record review.</div></div><div><h3>Results</h3><div>A 27-year-old female with no significant past medical history was discovered on routine lipid panel testing to have an LDL cholesterol of 208 mg/dL. She was initiated on atorvastatin 10 mg daily with a less than expected LDL lowering to 170 mg/dL, despite good adherence to therapy. She was referred for evaluation in Lipid Clinic, where she was also noted to have xanthelasma, with a subsequent calculated Dutch Lipid Clinic Network score of 9, consistent with definite familial hypercholesterolemia. Her atorvastatin was switched to rosuvastatin 40 mg daily, which again led to a less than expected response, with an on-treatment directly measured LDL cholesterol of 130 mg/dL. She was subsequently referred for genetic testing. Results from genetic testing showed two heterozygous loss-of-function variants in the ABCG8 gene, namely c.1608G > A (p.Trp536*) and c.647_657dup (p.Arg220Valfs*37). Due to limitations of the genetic assay, it could not be determined whether the variants were present on the same or separate ABCG8 genes. Subsequent cascade testing of the patient's biological mother, who does not have a history of hypercholesterolemia (LDL 87 mg/dL) or premature atherosclerotic cardiovascular disease, demonstrated the presence of only the c.1608G > A (p.Trp536*) variant, suggesting that the patient is likely a compound heterozygote for ABCG8, resulting in a confirmed diagnosis of inherited sitosterolemia. She was initiated on a low plant sterol diet and ezetimibe 10 mg daily, which led to a reduction in directly measured LDL cholesterol to 46 mg/dL.</div></div><div><h3>Conclusions</h3><div>Our case of a patient with compound heterozygous inherited sitosterolemia highlights that among patients with definite or suspected familial hypercholesterolemia with a less than expected response to standard lipid-lowering therapy, genetic testing of the patient and first-degree family members can help to refine the diagnosis and tailor therapy.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e30-e31"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frank Annie PhD, Sarah Rinehart MD, Osman Yousafzai MD
{"title":"Association of lipoprotein(a) with peripheral artery disease and outcomes: A propensity-matched retrospective analysis","authors":"Frank Annie PhD, Sarah Rinehart MD, Osman Yousafzai MD","doi":"10.1016/j.jacl.2025.04.037","DOIUrl":"10.1016/j.jacl.2025.04.037","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Elevated Lipoprotein(a) [Lp(a)] levels are associated with atherosclerosis and cardiovascular risk. Despite its well-established role in coronary artery disease, the impact of Lp(a) on peripheral artery disease (PAD) remains under-explored.</div></div><div><h3>Objective/Purpose</h3><div>This study evaluates the clinical characteristics and outcomes of Peripheral Artery Disease (PAD) patients with elevated Lp(a) compared to those without elevated Lp(a), including a matched cohort analysis.</div></div><div><h3>Methods</h3><div>This retrospective study included 3,397 PAD patients with elevated Lp(a) and compared them to 1,787,587 PAD patients without elevated Lp(a) from January 1, 2010, to January 25, 2025. Data were extracted from the U.S. network of the TriNetX platform. A propensity score matching approach yielded a 1:1 matched cohort (n=3,397 for each group) for balanced comparisons. Demographics, comorbidities, lipid profiles, and clinical outcomes were analyzed, with statistical significance defined as p < 0.05.</div></div><div><h3>Results</h3><div>In the unmatched cohort, patients with elevated Lp(a) were older (68.2 ± 12.6 vs. 65.4 ± 16.3, p < 0.01), had a higher prevalence of hypertension (80.9% vs. 51.7%, p < 0.01), CAD (50.6% vs. 23.2%, p < 0.01), diabetes (42.4% vs. 27.5%, p < 0.01), and heart failure (27.0% vs. 14.1%, p < 0.01). Post-match, there were no significant differences in age, gender distribution, or comorbidities, confirming successful matching.</div><div>At one year follow up, in the unmatched cohort patients with elevated Lp(a) exhibited higher rates of adverse outcomes, including AMI (7.9% vs. 5.6%, p=0.02), stroke (8.8% vs. 6.7%, p<0.01), and MACE (18.5% vs. 16.3%, p=0.01). However, death (4.6% vs. 7.2%, p<0.01) and Major Acute Limb Events (MALE) (3.2% vs. 5.6%, p<0.01) were lower in the Lp(a) cohort.</div><div>In the matched cohort, these differences were not statistically significant. Patients with PAD and elevated Lp(a) had significantly lower LDL and Non-HDL cholesterol levels compared to those without elevated Lp(a), suggesting better lipid control in this group. Specifically, LDL levels averaged 79.6 mg/dL vs. 82.3 mg/dL (p = 0.025), and non-HDL levels averaged 103.2 mg/dL vs. 108.2 mg/dL (p = 0.005), indicating more favorable lipid profiles in the elevated Lp(a) group.</div></div><div><h3>Conclusions</h3><div>PAD patients with elevated Lp(a) demonstrate significant differences in baseline characteristics and outcomes compared to those without elevated Lp(a). However, after matching, most differences in outcomes were mitigated, emphasizing the importance of Lp(a) as a potential risk marker in PAD. Despite its clinical significance, Lp(a) testing remains underutilized, highlighting the need for increased screening in PAD patients.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e27"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Early Triple Lipid-Lowering Therapy in Acute Coronary Syndrome: Results from the multicentric LAI-REACT Study","authors":"Kunal Mahajan MD, Rajeev Agarwala MD, Aziz Khan MD, Ashu Gupta MD, Aditya Batra MD, Vinod Vijan MD, Jaibharat Sharma MD, Surender Himral MD, S Iyengar MD, Raman Puri MD","doi":"10.1016/j.jacl.2025.04.017","DOIUrl":"10.1016/j.jacl.2025.04.017","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Patients experiencing acute coronary syndrome (ACS) are at high risk for recurrent cardiovascular events, necessitating a rapid reduction in low-density lipoprotein cholesterol (LDL-C). High-intensity statins (HIS) alone often fail to achieve guideline-recommended target levels. While proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) can improve outcomes, their high-cost limits accessibility, particularly in resource-constrained settings like India. Early initiation of triple combination therapy—HIS, ezetimibe, and bempedoic acid (BA)—may enhance lipid-lowering efficacy.</div></div><div><h3>Objective/Purpose</h3><div>The multicentric LAI-REACT (Lipid Association of India Recommended Early and Aggressive Lipid Lowering in ACS with Triple Combination Therapy) study aimed to evaluate the LDL-C-lowering efficacy of a novel regimen consisting of rosuvastatin 40 mg, ezetimibe 10 mg, and BA 180 mg daily (REB regimen) in statin-naïve patients diagnosed with ACS.</div></div><div><h3>Methods</h3><div>This prospective, multicentre investigation enrolled 516 statin-naïve ACS patients across five centres in India. All participants commenced treatment with the triple combination REB therapy upon admission. Lipid profiles were assessed at baseline and at weeks 1, 2, 4, and 6.</div></div><div><h3>Results</h3><div>The mean age of participants was 57.8 ± 11.2 years. The mean LDL-C concentration at admission was 116.9 ± 36.1 mg/dL, decreasing to 47.6 ± 17.9 mg/dL at week 1, and further to 44.1 ± 17.9 mg/dL at week 2. Levels stabilized at 44.1 ± 16.8 mg/dL at week 4 and reached 47.1 ± 19.4 mg/dL by week 6. Percentage reductions in LDL-C were significant across all time points: 59.3%, 62.3%, 61.6%, and 59.7% at weeks 1, 2, 4, and 6, respectively (p<0.001). Non-HDL cholesterol levels exhibited significant reductions of 52.9% at week 1, 55.3% at week 2, 54.4% at week 4, and 52.6% at week 6 (p<0.001). Mean apo-B levels decreased from 92.1 ± 24.1 mg/dL at admission to 62.6 ± 21.4 mg/dL by week 4, a 29.5% reduction. Target LDL-C levels <70 mg/dL were achieved in 89.8%, 91.5%, 92.2%, and 88.3% of patients at weeks 1, 2, 4, and 6, respectively. Similarly, target LDL-C levels <50 mg/dL were achieved in 61.3%, 72.9%, 69.2%, and 65.1% of patients at weeks 1, 2, 4, and 6, respectively.</div></div><div><h3>Conclusions</h3><div>The multicentric LAI-REACT study demonstrates that triple REB therapy rapidly and effectively achieves LDL-C targets following ACS, with significant reductions observed as early as one week and maintained through six weeks of follow-up. This regimen offers a cost-effective alternative to PCSK9 inhibitors, potentially improving long-term cardiovascular outcomes for high-risk populations in India.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e12-e13"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kamil Winnicki MD, Nataliya Pyslar MD, Raquel Soon-Shiong DO
{"title":"Loss of lipid-lowering effect of evolocumab over time: A case report","authors":"Kamil Winnicki MD, Nataliya Pyslar MD, Raquel Soon-Shiong DO","doi":"10.1016/j.jacl.2025.04.051","DOIUrl":"10.1016/j.jacl.2025.04.051","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>While real-world data on PCSK9 inhibitors (PCSK9i) indicate occasional non-response, reports of an initial strong lipid-lowering effect followed by loss of efficacy remain rare.</div></div><div><h3>Objective/Purpose</h3><div>To describe a case of a robust initial response to evolocumab with subsequent loss of lipid-lowering efficacy and evaluate the response to an alternative PCSK9i, alirocumab.</div></div><div><h3>Methods</h3><div>Review of case report.</div></div><div><h3>Results</h3><div>A 64-year-old woman with type 2 diabetes mellitus (T2DM), papillary thyroid cancer, prior PCI for multi-vessel coronary artery disease (CAD), and a strong family history of premature cardiovascular disease was diagnosed with heterozygous familial hypercholesterolemia. Despite treatment with rosuvastatin (40 mg) and ezetimibe (10 mg), her lipid levels remained suboptimal (non-HDL-C: 145 mg/dL, LDL-C: 125 mg/dL). Additional testing revealed an Lp(a) of 515 nmol/L and ApoB of 112 mg/dL, prompting initiation of PCSK9i therapy.</div><div>She initially received alirocumab but switched to evolocumab after several months due to insurance changes. At nadir on rosuvastatin, ezetimibe, and evolocumab, her non-HDL-C dropped to 43 mg/dL, LDL-C to 27 mg/dL, Lp(a) to 359 nmol/L and ApoB to 37 mg/dL. However, after ten months on evolocumab, her non-HDL-C increased to 90 mg/dL and LDL-C to 64 mg/dL, followed by a further rise three months later (non-HDL-C: 156 mg/dL, LDL-C: 135 mg/dL), despite confirmed adherence to all lipid-lowering therapies and proper injection technique. These findings were confirmed on repeat testing. Lp(a) remained lower than baseline at 281 nmol/L, with ApoB at 110 mg/dL. Secondary causes, including medication interactions, thyroid dysfunction, nephrotic syndrome, obstructive liver disease and dermatological absorption issues, were ruled out.</div><div>She was switched to alirocumab, leading to lipid improvement within six weeks (non-HDL-C: 93 mg/dL, LDL-C: 77 mg/dL, ApoB: 80 mg/dL). However, the degree of lipid-lowering was less pronounced than her initial response to evolocumab, with Lp(a) increasing to 369 nmol/L.</div></div><div><h3>Conclusions</h3><div>This case highlights an unusual loss of evolocumab efficacy despite an initially strong response. Potential mechanisms include the development of neutralizing anti-drug antibodies or acquired resistance related to PCSK9 or LDLR mutations. Given her initial robust response, a genetic loss-of-function mutation in LDLR or PCSK9 is less likely, raising the possibility of antibody-mediated drug inactivation. Further research is needed to elucidate mechanisms of variable PCSK9i efficacy and determine whether switching to an alternative PCSK9i is an effective strategy.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e37"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cassidy Maggio PharmD, Deborah Rodgers RN, Mark Calderon MD, Scott Maron MD, John Vigorita MD, James Barr MD, Thomas Kloos MD, Anjali Kakwani PharmD
{"title":"Impact of value-based comprehensive medication management on statin prescribing in patients with type 2 diabetes mellitus","authors":"Cassidy Maggio PharmD, Deborah Rodgers RN, Mark Calderon MD, Scott Maron MD, John Vigorita MD, James Barr MD, Thomas Kloos MD, Anjali Kakwani PharmD","doi":"10.1016/j.jacl.2025.04.077","DOIUrl":"10.1016/j.jacl.2025.04.077","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Patients with diabetes are at an increased risk for cardiovascular events as well as cardiovascular mortality. Evidence based practice guidelines recommend statins for a reduction in cardiovascular events in patients with diabetes. Despite the evidence, guideline-directed prescribing of statin therapy remains suboptimal due to a variety of reasons including patient hesitation due to adverse effects, medication adherence, clinical inertia, continuity of care, as well as socioeconomic barriers.</div></div><div><h3>Objective/Purpose</h3><div>Evaluate the impact of comprehensive medication management (CMM) performed by an Accountable Care Organization (ACO) Clinical Pharmacy Specialist (CPS) on statin prescribing in patients with type 2 diabetes mellitus (T2DM).</div></div><div><h3>Methods</h3><div>We performed a retrospective chart review to evaluate the impact of medication management performed by an ACO CPS on statin prescribing in patients with type 2 diabetes mellitus. Patient medical records as well as payer claims data were reviewed. Inclusion criteria consisted of Medicare Advantage patients who did not receive a statin prescription in 2020. Epic secure chat and in-basket messaging were primary modes of communication in the intervention arm, while fax, reports, and telephone calls were implemented in the standard of care arm.</div></div><div><h3>Results</h3><div>A total of 75 patients were included in the ACO Medication Management arm and 63 patients in the standard of care arm. An increase in statin prescribing was seen for both arms, 52% vs. 31.7%, respectively. 97% of patients in the ACO Medication Management arm had a diagnosis for T2DM compared to 100% in the standard of care arm. 19.4% of patients had atherosclerotic cardiovascular disease (ASCVD) in the ACO Medication Management arm compared to 17.0% in the standard of care arm. There were a total of 138 Medication Management encounters documented in the electronic medical record. The ACO Clinical Pharmacy Specialist identified 175 medication therapy problems. 141 medication therapy problems had actionable pharmacotherapy interventions and 61% of these recommendations were accepted by providers.</div></div><div><h3>Conclusions</h3><div>Value-based medication management by a CPS utilizing secure chat and in basket messaging resulted in an increase in statin prescribing by 52% compared to 31.7% with standard of care interventions. Medication management improved prescribing of guideline-directed pharmacotherapy for the primary and secondary prevention of ASCVD in patients with T2DM within a value-based delivery model.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e57"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rahul Rege MD, Yisrael Wallach MD, Ji-Cheng (Jason) Hsieh MD, Cassie Wang MD, Jack Jnani MD, Spencer Weintraub MD, Lauren Block MD, Nadim Ammari MD
{"title":"A novel gamified ambulatory curriculum to educate internal medicine residents on lifestyle medicine and counseling","authors":"Rahul Rege MD, Yisrael Wallach MD, Ji-Cheng (Jason) Hsieh MD, Cassie Wang MD, Jack Jnani MD, Spencer Weintraub MD, Lauren Block MD, Nadim Ammari MD","doi":"10.1016/j.jacl.2025.04.021","DOIUrl":"10.1016/j.jacl.2025.04.021","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Appropriate counseling of patients in nutrition and physical activity remains a cornerstone in cardiovascular disease prevention. Effective education of internal medicine residents on guideline-based dietary and exercise recommendations is essential in mitigating cardiovascular risk. Gamification is a useful tool given its potential benefits on engagement and knowledge in medical education.</div></div><div><h3>Objective/Purpose</h3><div>We compared a novel gamified ambulatory curriculum to traditional slide-based curriculum on test performance and ratings of confidence, knowledge, and motivation among categorical internal medicine residents.</div></div><div><h3>Methods</h3><div>At a single large academic internal medicine residency program, we compared a resident-led virtual gamified curriculum utilizing KAHOOT® to a traditional slide-based curriculum. Residents received a 1-hour case-based session summarizing American College of Lifestyle Medicine guidelines. Pre-post-surveys included knowledge questions, 5-point Likert scales (1 to 5) assessing self-reported confidence in lifestyle medicine counseling and referencing guidelines, motivation to adhere to guidelines, engagement, and a question regarding format preference. Matched pre-post test data and unmatched Likert scale data were analyzed with two-tailed students t-tests.</div></div><div><h3>Results</h3><div>65/108 (60.2%) categorical internal medicine residents received the gamified format and 43/108 (39.8%) received the traditional format. 22/65 (33.8%) residents in the gamified group and 8/43 (18.6%) in the traditional group completed pre- and post-tests and were analyzed as matched pairs. There was a significant increase in pre- to post-test performance in the gamified (pre- 0.34, post- 0.62, p<0.01) and traditional (pre- 0.35, post- 0.67, p = 0.02) groups. There was no significant difference in the post-pre change in test performance between groups. There were significant increases in Likert scale ratings of confidence in counseling patients in the gamified (pre- 2.61 to post- 4.0, p<0.01) and traditional (pre- 3.26 to post- 4.0, p=0.01) groups. There were significant increases in Likert scale ratings of confidence in referencing guidelines in both gamified (pre- 1.90 to post- 3.73, p<0.01) and traditional (pre- 2.47 to post- 3.90, p<0.01) groups. There was no significant difference between groups in post-survey only Likert scale ratings of engagement or motivation to adhere to guidelines. 16/22 (72.7%) of residents in the gamified group and 6/8 (75%) of residents in the traditional group preferred a gamified format.</div></div><div><h3>Conclusions</h3><div>The gamified ambulatory curriculum on Lifestyle Medicine was effective in improving resident knowledge, with similar outcomes to a traditional slide-based format. A gamified format was generally preferred by residents. Next steps warrant assessment of whether effective gamified educati","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e15"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144166973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rahul Rege MD, Shafkat Salam MD, Spencer Weintraub MD, Cassie Wang MD, Andrew Cyr MD, Christian Leung MD, Lauren Block MD, Ji-Cheng (Jason) Hsieh MD
{"title":"The lipid leaderboards: A virtual gamified curriculum to educate internal medicine residents on guideline-based management of hyperlipidemia","authors":"Rahul Rege MD, Shafkat Salam MD, Spencer Weintraub MD, Cassie Wang MD, Andrew Cyr MD, Christian Leung MD, Lauren Block MD, Ji-Cheng (Jason) Hsieh MD","doi":"10.1016/j.jacl.2025.04.004","DOIUrl":"10.1016/j.jacl.2025.04.004","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Dyslipidemia remains a prevalent risk factor for cardiac disease, and effective education of trainees on best practice guidelines is essential. There is an increasing interest in gamification as a tool for medical education, due to its benefits on learner engagement and knowledge.</div></div><div><h3>Objective/Purpose</h3><div>We investigated the effectiveness of gamification in educating internal medicine residents on hyperlipidemia at a single, large academic internal medicine program. We compared a gamified interactive curriculum to a traditional slide-based curriculum on objective measures of test performance as well as self-reported ratings of confidence, knowledge, and motivation.</div></div><div><h3>Methods</h3><div>Residents received a 45-minute resident-led, case-based session summarizing 2018 ACC/AHA Guidelines, the 2022 AHA Expert Consensus Decision Pathway, and 2022 USPSTF Guidelines on management of hyperlipidemia delivered in a gamified format utilizing KAHOOT!® or a traditional slide-based format. Residents were invited to complete pre- and post-surveys which included knowledge questions, 5-point Likert scales (1 to 5) assessing knowledge, engagement, and motivation, and one question regarding preference of format. Matched pre-post data was analyzed with paired students’ t-tests with unequal variance.</div></div><div><h3>Results</h3><div>37 of 108 total residents (34.2%) completed pre-post surveys: 24/65 (36.9%) in the gamified and 13/43 (40.2%) in the traditional group. The gamified (mean pre- 56% to post- 74%, p = < 0.01) and traditional (mean pre- 44% to post- 63%, p = 0.01) groups had significant increases in knowledge test scores after the session. Between both groups, there was no difference in the increase in test scores (gamified post-pre 17.8% vs. traditional 18.3%, p = 0.46) or increase in Likert scale ratings of knowledge (gamified post-pre 0.95 vs. traditional 0.91, p = 0.43). There was also no difference in post-session Likert scale ratings of engagement (gamified 4.3 vs. traditional 4.4, p = 0.42) or motivation in adhering to guidelines (gamified 4.3 vs. 4.5, p = 0.14). 42% of residents in the traditional group and 92% in the gamified group desired a gamified format for future sessions.</div></div><div><h3>Conclusions</h3><div>Both gamified and traditional formats significantly improved knowledge of hyperlipidemia guidelines. A gamified format was non-inferior to traditional format in post-session Likert scale ratings of engagement and motivation. A greater majority of residents desired a gamified format for future sessions. Gamification is an effective teaching method with similar outcomes to traditional methods. Effective education on professional guidelines pertaining to hyperlipidemia may lead to more evidence driven management of dyslipidemia and improve clinical outcomes.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e2"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gissette Soffer MD, Susan Renz PhD, Lau Yan Yung DNP
{"title":"Improving adherence with lipid-lowering agents","authors":"Gissette Soffer MD, Susan Renz PhD, Lau Yan Yung DNP","doi":"10.1016/j.jacl.2025.04.075","DOIUrl":"10.1016/j.jacl.2025.04.075","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Atherosclerotic cardiovascular disease (ASCVD) remains a major cause of death and disability, particularly in patients with hypercholesterolemia who require lipid-lowering agents to reduce ASCVD risk. However, non-adherence to lipid-lowering drugs can diminish the benefits of medications and increase cardiovascular risk.</div></div><div><h3>Objective/Purpose</h3><div>To determine whether sending medication adherence reminders through the patient portal and incorporating education for patients with hypercholesterolemia can improve medication adherence.</div></div><div><h3>Methods</h3><div>The project enrolled new patients referred to the clinic with hypercholesterolemia who required lipid-lowering agents for ASCVD risk reduction. Participants were required to have the patient portal installed and manage the patient's portal apps independently. The eligible participants for the project were English-speaking, aged > 18 years, and never on lipid-lowering medications or added new lipid-lowering agents to achieve the therapeutic goal. The interventions included sending weekly medication adherence reminders through the patient portal and incorporating education on medication adherence during the initial visit. All participants were asked to complete the Medication Adherence Report Scale-5 (MARS-5) questionnaire during their initial and post-treatment visits. Lipid profiles are the standard of care for monitoring medication responses. Additional data: Patient self-report of medication adherence, patient review message report from Epic, and participants' show-up rate in the post-treatment follow-up at 6 weeks as additional data to measure medication adherence.</div></div><div><h3>Results</h3><div>Eight participants were enrolled in the project. Data were analyzed using the Wilcoxon signed-rank test to compare pre-and post-LDL-C, Triglycerides, and MARS-5. A statistically significant comparison of pre-and post-intervention for LDL-C was found p =0.012, z = -2.52. The comparison of pre- and post-intervention triglyceride levels was p =0 .484, z = -0.70. The comparison of the pre-and post-intervention MARS-5 scores for medication adherence was p =0.11, z = 1.60. The patient self-reported adherence rate was 97%, the patient message review rate was 70%, and post-treatment follow-up at 6 weeks was 100%.</div></div><div><h3>Conclusions</h3><div>This project demonstrated improved medication adherence based on self-reported adherence, LDL-C reduction, and high MARS-5 scores. The participants’ feedback also indicated that education on medication adherence improved their awareness of disease prevention. The project was unable to show that sending messages of medication adherence reminders via Epic to the patient portal was associated with improved medication adherence; however, patient portals have demonstrated improved patient engagement and outcomes. The post-treatment follow-up rate in this study was 100%. Future studies s","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e55-e56"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Outcomes of hyperglycemic emergencies among Asian Americans compared to Caucasians: A survey-weighted nationwide assessment of health equity","authors":"Oluwatoyosi Awotorebo MD, Ikponmwosa Ogieuhi MD, Aseed Mestahiri MD, Zeth Tolu-Akinnawo MD, Karldon Nwaezeapu MD, Godbless Ajenaghughrure MD, Anuoluwa Oyetoran MD, Kayode Ogunniyi MBBS","doi":"10.1016/j.jacl.2025.04.068","DOIUrl":"10.1016/j.jacl.2025.04.068","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Hyperglycemic emergencies—diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS)—are life-threatening conditions that can lead to significant morbidity and mortality. Although previous studies have shown racial differences in diabetes-related complications, data on acute hyperglycemic crises among Asian Americans remain limited.</div></div><div><h3>Objective/Purpose</h3><div>We aimed to investigate disparities in in-hospital outcomes among Asian Americans compared to Caucasians hospitalized for hyperglycemic emergencies, focusing on mortality, mechanical ventilation, vasopressor use, acute kidney injury (AKI), length of stay (LOS), and hospital charges.</div></div><div><h3>Methods</h3><div>Using survey-weighted analyses of a nationally representative inpatient database (2021), we identified adult patients (≥ 18 years) admitted with a principal diagnosis of DKA or HHS. We compared Asian Americans (race code=4) and Caucasians (race code=1). Outcomes were assessed via logistic or linear regression, both unadjusted and adjusted for age, Charlson Comorbidity Index, sex, and median household income quartile by ZIP code.</div></div><div><h3>Results</h3><div>Unadjusted models showed that Asian Americans had higher odds of mortality (odds ratio [OR] 1.25, p=0.033) and AKI (OR 1.09, p=0.002), longer LOS (p=0.029), and greater total charges (p < 0.001) compared to Caucasians, with no significant difference in mechanical ventilation or vasopressor use. After multivariable adjustment, the gap in mortality was no longer statistically significant (OR 1.13, p=0.233), and AKI risk was attenuated (OR 1.05, p=0.082). Differences in LOS also became non-significant (p=0.432). However, Asian Americans continued to incur significantly higher hospital charges (difference + $3,956, p < 0.001).</div></div><div><h3>Conclusions</h3><div>In this survey-weighted, nationally representative analysis, Asian Americans presenting with hyperglycemic emergencies displayed higher unadjusted mortality, AKI rates, and healthcare costs than Caucasians. After adjustment, racial differences in clinical outcomes were largely diminished, but higher total charges persisted. These findings highlight the need for deeper investigation into potential drivers of cost disparities and suggest that tailored interventions may help reduce financial burdens and ensure equitable care for all patients experiencing severe hyperglycemic episodes.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e51-e52"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mendel Roth PhD, Richard Childress MD, Marshall Elam MD, Nicholas Townsend PharmD, Bryan Jett PharmD, Mariko Thel PharmD, Lonnell Gant DNP
{"title":"A case report of hyperchylomicronemia and recurrent pancreatitis in a patient with the pArg333His variant of the lipoprotein lipase gene","authors":"Mendel Roth PhD, Richard Childress MD, Marshall Elam MD, Nicholas Townsend PharmD, Bryan Jett PharmD, Mariko Thel PharmD, Lonnell Gant DNP","doi":"10.1016/j.jacl.2025.04.043","DOIUrl":"10.1016/j.jacl.2025.04.043","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>A 69-year-old African American male with severe hypertriglyceridemia, hyperchylomicronemia (> 4,000), and recurrent pancreatitis associated with the p.Arg333His variant of the Lipoprotein Lipase (LPL) gene. The patient did not respond to multiple triglyceride-lowering medications and continued to experience recurring episodes of pancreatitis. Severe hypertriglyceridemia, poor response to pharmacologic therapy, and history of recurrent pancreatitis prompted consideration of primary chylomicronemia. Genetic testing identified two single nucleotide variants of the LPL gene: p.Arg333His and a rare variant of unknown significance (VUS), p.His71Gln. Dietary control, collaboration with a nutritionist, and Orlistat have been successful.</div></div><div><h3>Objective/Purpose</h3><div>Show the correlation of likely pathogenic multivariant genes and the intersectionality of environmental factors’ roles in severe hypertriglyceridemia.</div></div><div><h3>Methods</h3><div>Due to the severity of the hypertriglyceridemia, we conducted cascade screening and genetic testing for the patient and family.</div></div><div><h3>Results</h3><div>Genetic testing identified the pathogenic pArg333His variant of the LPL gene, along with a 92nd percentile polygenic risk score for hypertriglyceridemia in the proband, resulting in a diagnosis of multifactorial chylomicronemia syndrome (MCS). A second variant of the LPL gene (p.His71Gln) was observed, and cascade screening revealed that this and the pathogenic gene variant were carried on different LPL gene alleles in the proband (compound heterozygote). A family member carrying only the p.His71Gln gene variant was found to have moderate hypertriglyceridemia despite a low polygenic risk score for hypertriglyceridemia.</div></div><div><h3>Conclusions</h3><div>Genetic testing identified a pathogenic variant LPL gene combined with a high polygenic risk score for hypertriglyceridemia, which led to the diagnosis of multifactorial hyperchylomicronemia. Cascade screening suggested the second LPL gene variant (p.His71Gln) in biallelic configuration to the pathogenic p.Arg333His variant contributed to the severity of the patient's hypertriglyceridemia. The genetic findings guided the treatment referral to a nutritionist, a 10-15% fat-restricted diet, and adherence to Orlistat, which inhibits fat absorption. The patient has maintained triglyceride levels below 400 mg/dL and no further episodes of pancreatitis. The novel p.His71Gln variant warrants further investigation to clarify its role in the pathogenesis of multifactorial chylomicronemia syndrome.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e31-e32"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}