Journal of clinical lipidology最新文献

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A case of dysbetalipoproteinemia: diagnostic and therapeutic strategies 异常脂蛋白血症1例:诊断和治疗策略
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.013
Swathi Bolneni MSHS, Adedoyin Akinlonu MD, Ann Yilmaz MSN, James Underberg MD, Astrid Jara Pernia MD, Kalyani Dhar MD
{"title":"A case of dysbetalipoproteinemia: diagnostic and therapeutic strategies","authors":"Swathi Bolneni MSHS, Adedoyin Akinlonu MD, Ann Yilmaz MSN, James Underberg MD, Astrid Jara Pernia MD, Kalyani Dhar MD","doi":"10.1016/j.jacl.2025.04.013","DOIUrl":"10.1016/j.jacl.2025.04.013","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Dysbetalipoproteinemia (DBL) is an underdiagnosed inherited disorder of remnant lipoprotein metabolism associated with high levels of cholesterol and triglycerides (TG). In DBL, dysfunctional apolipoprotein E (apoE) impairs LDL receptor-mediated clearance of apoB-containing lipoproteins.   </div></div><div><h3>Objective/Purpose</h3><div>Describe a case with dysbetalipoproteinemia including diagnosis, management and treatment. Highlight the role of specialty lipid clinics in optimizing care for patients with uncommon lipid disorders. </div></div><div><h3>Methods</h3><div>Case report about dysbetalipoproteinemia.</div></div><div><h3>Results</h3><div>A 40-year-old male with a history of hypertension, pre-diabetes, and obesity (BMI 32) first learned he had high cholesterol in his 20s. His mother and 15-year-old son also have elevated cholesterol. He smokes four to five cigarettes intermittently and drinks two to three beers monthly.</div><div>The patient's baseline lipid values showed TG 582 mg/dL, non-HDL-cholesterol (non-HDL-C) 365 mg/dL, total cholesterol (TC) 403 mg/dL. Atorvastatin 80 mg was initiated with subsequent labs noting TG 358 mg/dL, LDL 174.3 mg/dL (Martin-Hopkins method), apoB 85 mg/dL, TC 275 mg/dL, HDL 40 mg/dL. Lp(a) was within normal limits. </div><div>He returned to the clinic three years later, off lipid lowering therapy (LLT), complaining of firm, yellow nodules at the elbows. Labs revealed TG 764 mg/dL, non-HDL-C 515 mg/dL, TC 548 mg/dL. Atorvastatin 80 mg, non-prescribed omega-3 fatty acid 1 gram, and fenofibrate 48 mg were initiated. Biopsy confirmed xanthomas, which prompted referral to lipid clinic. </div><div>In lipid clinic, discordance between LDL-C and apoB raised suspicion for dysbetalipoproteinemia. Genetic testing  demonstrated homozygosity for the APOE2 allele and heterozygosity for a risk variant in the APOA5 gene, consistent with familial dysbetalipoproteinemia. A non-contrast CT coronary returned with a calcium score of 38, placing him in the 93rd percentile based on age/sex. Omega-3 supplement was discontinued, and ezetimibe was added to LLT. Repeat labs demonstrated TG 340 mg/dL, non-HDL-C 149 mg/dL.  Lifestyle counseling was provided, fenofibrate discontinued. Further LDL-C/apoB lowering is being considered. </div></div><div><h3>Conclusions</h3><div>Patients with suspected DBL should be seen expeditiously in specialty lipid clinics to manage lipid levels and long-term cardiovascular risk. Dysbetalipoproteinemia should be considered in patients with elevated levels of cholesterol and TG, especially if xanthomas are present. Diagnosis is supported by normal or mildly elevated apoB levels. If genetic testing confirms APOE2 homozygosity, a secondary metabolic “hit” is still needed to express DBL phenotype. Treatment of DBL focuses on lifestyle modifications, including a traditional type III diet, alcohol limitation, exercise, and weight loss. LLT should be initiated when life","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e8-e9"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167928","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}
引用次数: 0
Effective treatment of statin- and ezetimibe-resistant hyperlipidemia in a patient with active membranous nephrotic syndrome using a PCSK9 inhibitor PCSK9抑制剂有效治疗活动性膜性肾病综合征患者的他汀类和依折替米耐药高脂血症
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.039
Verity Ramirez MD, Yongkang Zhang MD
{"title":"Effective treatment of statin- and ezetimibe-resistant hyperlipidemia in a patient with active membranous nephrotic syndrome using a PCSK9 inhibitor","authors":"Verity Ramirez MD,&nbsp;Yongkang Zhang MD","doi":"10.1016/j.jacl.2025.04.039","DOIUrl":"10.1016/j.jacl.2025.04.039","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Hyperlipidemia is a characteristic of nephrotic syndrome (NS), contributing to increased cardiovascular risk. Proprotein convertase subtilisin kexin 9 (PCSK9) is upregulated in NS, leading to dysregulated lipid metabolism. Consequently, PCSK9 inhibitors are emerging as promising therapeutic agents for NS-associated hyperlipidemia. This case report describes the effectiveness of a PCSK9 inhibitor in treating statin- and ezetimibe-resistant hyperlipidemia in a patient with active membranous nephropathy (MN).</div></div><div><h3>Objective/Purpose</h3><div>To highlight the efficacy of PCSK9 inhibitors in managing NS-associated hyperlipidemia.</div></div><div><h3>Methods</h3><div>A chart review was conducted.</div></div><div><h3>Results</h3><div>A 40-year-old male with MN-type nephrotic syndrome complicated by recurrent pulmonary emboli and chronic thromboembolic pulmonary hypertension (CTEPH), and insulin-dependent diabetes presented with severe hyperlipidemia on high-dose statin and ezetimibe. His immunotherapy for NS was delayed due to a planned pulmonary thromboembolectomy for CTEPH.</div><div>The patient did not drink alcohol and smoked half a pack of cigarettes daily. He was unable to exercise due to dyspnea from CTEPH. His lipid panel before medical therapy was total cholesterol (TC) 295 mg/dL, triglycerides (TG) 172 mg/dL, and LDL 195 mg/dL. After initiation of atorvastatin 80 mg and ezetimibe 10 mg, his lipid panel remained elevated with TC 296 mg/dL, TG 323 mg/dL, and LDL 174 mg/dL. Lipoprotein(a) was 69 mg/dL.</div><div>Given persistent hyperlipidemia, he was started on the PCSK9 inhibitor Evolocumab. Within one month, his lipid profile dramatically improved to TC 120 mg/dL, TG 131 mg/dL, and LDL 44 mg/dL, representing a 74% reduction in LDL and 59% reduction in TG. The patient underwent planned pulmonary thromboembolectomy and started NS treatment post-surgery.</div></div><div><h3>Conclusions</h3><div>This case highlights the efficacy of Evolocumab in managing hyperlipidemia in a patient with active MN-type nephrotic syndrome who had not yet started immunotherapy. Previous case reports have shown similar successes with PCSK9 inhibitors in immunotherapy-refractory nephrotic syndrome not responding to statins, including a Japanese report where Evolocumab reduced LDL by 78% in a patient with refractory minimal change disease (MCD) on atorvastatin. Another case series showed a 36.8% reduction in LDL with PCSK9 inhibitors in 12 patients with refractory MN-, MCD-, or focal segmental glomerulosclerosis (FSGS)-type NS not at LDL goal with statin ± ezetimibe. Our case adds to the existing literature by demonstrating that PCSK9 inhibitors can effectively treat NS-associated hyperlipidemia even before immunotherapy initiation, supporting the need for future studies on PCSK9 inhibitors as a potent therapeutic for NS-associated hyperlipidemia.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e29"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167942","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}
引用次数: 0
Clinical outcomes in patients hospitalized with diabetic ketoacidosis and acute pancreatitis: A nationwide analysis 糖尿病酮症酸中毒合并急性胰腺炎住院患者的临床结果:一项全国性分析
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.090
Michael Fatuyi MD, Mohammad Amin Eshghabadi MD, Gregory Pierce BS, Brenda Pierce MD, Natalie Assaf BA, M Kenan Rahima MD, ReyhanehSadat Rahima MD, Borna Mansouri MD, Sila Mateo Faxas MD, Jason Pichardo MD, Fayaz Khan MD, Mohammed Najdat Seijari MD, Muayad Alzamara MD, Shahla Mallick MD, Mian Hammas MD
{"title":"Clinical outcomes in patients hospitalized with diabetic ketoacidosis and acute pancreatitis: A nationwide analysis","authors":"Michael Fatuyi MD,&nbsp;Mohammad Amin Eshghabadi MD,&nbsp;Gregory Pierce BS,&nbsp;Brenda Pierce MD,&nbsp;Natalie Assaf BA,&nbsp;M Kenan Rahima MD,&nbsp;ReyhanehSadat Rahima MD,&nbsp;Borna Mansouri MD,&nbsp;Sila Mateo Faxas MD,&nbsp;Jason Pichardo MD,&nbsp;Fayaz Khan MD,&nbsp;Mohammed Najdat Seijari MD,&nbsp;Muayad Alzamara MD,&nbsp;Shahla Mallick MD,&nbsp;Mian Hammas MD","doi":"10.1016/j.jacl.2025.04.090","DOIUrl":"10.1016/j.jacl.2025.04.090","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Despite the clinical relevance, there is a scarcity of comprehensive studies evaluating the clinical outcomes of patients hospitalized with both diabetic ketoacidosis (DKA) and acute pancreatitis (AP).</div></div><div><h3>Objective/Purpose</h3><div>Consequently, this study aims to assess the clinical outcomes in this specific patient population.</div></div><div><h3>Methods</h3><div>We queried the National Inpatient Sample from 2017-2021 for adult patients hospitalized with diabetic ketoacidosis (DKA) and acute pancreatitis (AP). The primary outcome was inpatient mortality. Secondary outcomes included cardiac arrest, gastrointestinal bleeding (GIB), intubation, length of stay (LOS), and total hospital charge. A multivariable logistic regression analysis was used to estimate clinical outcomes. P-value &lt; 0.05 was considered significant.</div></div><div><h3>Results</h3><div>We analyzed 1,593,213 hospitalizations with diabetic ketoacidosis (DKA) and identified 75,769 cases (4.8%) with concurrent acute pancreatitis (AP). The cohorts with DKA and AP versus DKA without AP had a mean age of 44.7 vs. 46.4 years; male prevalence of 39.7% vs. 49.1%; and White ethnicity distribution of 50.2% vs. 54.8%. Clinical outcomes indicated a hospitalization mortality rate of 3.8% vs. 3.7% (OR 1.22, CI 1.12 - 1.33); a cardiac arrest incidence of 1.8% vs. 1.7% (OR 1.15, CI 1.01 - 1.30); an intubation requirement of 9.7% vs. 6.4% (OR 1.69, CI 1.60 - 1.79); a gastrointestinal bleeding rate of 5.7% vs. 3.9% (OR 1.54, CI 1.44 - 1.66); a length of stay (LOS) of 6.7 days vs. 5.1 days (IRR 1.36, CI 1.34 - 1.40); and total hospital charges of $20,727.41 vs. $14,586.77 (IRR 1.44, CI 1.40 - 1.48). All p-values were less than 0.05.</div></div><div><h3>Conclusions</h3><div>This study highlights the significant differences in clinical outcomes between patients hospitalized with diabetic ketoacidosis (DKA) and acute pancreatitis (AP) compared to those with DKA alone. Patients with concurrent DKA and AP exhibited higher rates of mortality, cardiac arrest, intubation, gastrointestinal bleeding, longer hospital stays, and increased hospital charges. These findings underscore the need for heightened clinical awareness and proactive management strategies for patients with both DKA and AP to mitigate these adverse outcomes. Further research is warranted to explore the underlying mechanisms and develop targeted interventions to improve prognosis in this high-risk population.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e65"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167945","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}
引用次数: 0
Trends and experience with lipoprotein(a) testing in a large academic medical center 某大型学术医疗中心脂蛋白(a)检测的趋势和经验
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.088
Victoria Clair BA, David Saxon MD, Steven Simon MD, Edward Gill MD, Francis Zirille MD
{"title":"Trends and experience with lipoprotein(a) testing in a large academic medical center","authors":"Victoria Clair BA,&nbsp;David Saxon MD,&nbsp;Steven Simon MD,&nbsp;Edward Gill MD,&nbsp;Francis Zirille MD","doi":"10.1016/j.jacl.2025.04.088","DOIUrl":"10.1016/j.jacl.2025.04.088","url":null,"abstract":"<div><h3>Funding</h3><div>Kaneka Corporation</div></div><div><h3>Background/Synopsis</h3><div>Evidence has grown around the relationship between lipoprotein(a) [Lp(a)] and cardiovascular disease risk. The 2024 focused update on Lp(a) from the National Lipid Association recognizes elevated plasma Lp(a) as an important independent, causal risk factor for atherosclerotic cardiovascular disease and aortic valve stenosis.</div></div><div><h3>Objective/Purpose</h3><div>We hypothesize that there has been slow adoption of recommended Lp(a) screening and aim to understand current testing rates and trends within a large healthcare system, especially in higher risk patients.</div></div><div><h3>Methods</h3><div>Within a university-based health system, a large data extraction model was used to identify all patients who had undergone Lp(a) testing. Relevant high-risk patient populations, including all those with known histories of coronary artery disease, cerebral vascular accident, peripheral arterial disease, aortic stenosis, LDL-C &gt;190, coronary artery calcium score &gt;100, and familial hypercholesterolemia (FH) across the system were identified using diagnosis and procedural codes.</div></div><div><h3>Results</h3><div>In a health system with an estimated number of 4,553,100 unique patients, Lp(a) testing has been done 3,361 times on 1,976 unique patients between 12/2013 and 11/2023, representing approximately 0.04% of patients. Since 2016, Lp(a) measurement has increased on average by 23.6% year-over-year, as detailed in Figure 1, with rates of Lp(a) testing in each specific comorbidity group outlined in Figure 2. Most notably, patients with FH have a significantly higher rate of Lp(a) testing (25.7%) while patients with known aortic stenosis have a significantly lower rate of Lp(a) testing (0.7%) despite recommendations.</div></div><div><h3>Conclusions</h3><div>In a large academic medical center, Lp(a) measurement remains low, though with notable increase in just the last few years. Each of the patient comorbidity groups outlined have a higher rate of Lp(a) testing than the general population but remain significantly lower than recommended by recent guidelines regarding Lp(a) testing. The exception is patients with a diagnosis of FH, who have significantly higher rates of testing, likely influenced by following in a specialty lipid clinic. Our group postulates that the number of patients undergoing Lp(a) testing will exponentially increase, prompting the need for clearer guidelines for the management of each subpopulation of patients, notably as novel therapeutic agents directed at Lp(a) become approved and the experience with apheresis for Lp(a) continues to grow.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e63-e64"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167949","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}
引用次数: 0
Genetic mutations and associated phenotypes in familial hypercholesterolemia: A biobank study 家族性高胆固醇血症的基因突变和相关表型:一项生物库研究
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.099
Steven Simon MD, David Madison BA, David Saxon MD, Shannon Christen BA, Carolyn Watts BS
{"title":"Genetic mutations and associated phenotypes in familial hypercholesterolemia: A biobank study","authors":"Steven Simon MD,&nbsp;David Madison BA,&nbsp;David Saxon MD,&nbsp;Shannon Christen BA,&nbsp;Carolyn Watts BS","doi":"10.1016/j.jacl.2025.04.099","DOIUrl":"10.1016/j.jacl.2025.04.099","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Familial hypercholesterolemia (FH) is the most common monogenic disease, affecting 1:250-300 people in the general population. Despite the high prevalence of FH, it is often under-recognized and under-treated, which can lead to premature cardiovascular morbidity and mortality in affected individuals. This study explores the relationship between genetic mutations and phenotypic manifestations in familial hypercholesterolemia.</div></div><div><h3>Objective/Purpose</h3><div>To investigate the phenotypic characteristics associated with genetic mutations in familial hypercholesterolemia, focusing on lipid levels, coronary atherosclerosis, and use of pharmacotherapy. The study aims to provide insights into how genetic variants contribute to clinical outcomes in FH.</div></div><div><h3>Methods</h3><div>The University of Colorado's Center for Personalized Medicine maintains a genetic biobank of over 235,000 patients, from which a total of 27 participants with mutations consistent with familial hypercholesterolemia were examined. A retrospective analysis was conducted to evaluate the phenotypes including clinical diagnosis, lipid levels, medication usage of these individuals using chart review.</div></div><div><h3>Results</h3><div>The mean age of participants was 64 years. 96% (26/27) of participants had mutations of the LDL receptor gene (LDL-R). 66% (18/27) had chart identification of heterozygous FH. The most recent mean LDL level was 117 mg/dL (SD = 56 mg/dL), with the average highest recorded LDL-C in the chart of 183 mg/dL. 40% (11/27) of participants had documented coronary atherosclerosis. 70% (19/27) of participants were on statin therapy, and 44% (12/27) were using additional lipid-lowering treatments.</div></div><div><h3>Conclusions</h3><div>This study highlights the clinical diversity in familial hypercholesterolemia patients based on their genetic mutations and associated phenotypes. Identifying genetic variants in this cohort reveals that while elevated LDL levels and coronary atherosclerosis are common, there is significant variability in clinical presentation, including medication use and clinical identification of heterozygous FH. This approach of identifying genetic mutations first, rather than focusing on phenotypic presentation, offers a unique perspective on FH and its management.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e71"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167955","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}
引用次数: 0
Improving adherence to universal lipid screening in pediatric patients at a tertiary healthcare system in new jersey through a quality improvement initiative 提高坚持普遍脂质筛查儿科患者在三级医疗保健系统在新泽西州通过质量改进倡议
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.020
Dilek Sen MD, Mansi Kanhere MD, Judy Washington MD, Antonia Carbone PharmD, Tiffany Haynes MD
{"title":"Improving adherence to universal lipid screening in pediatric patients at a tertiary healthcare system in new jersey through a quality improvement initiative","authors":"Dilek Sen MD,&nbsp;Mansi Kanhere MD,&nbsp;Judy Washington MD,&nbsp;Antonia Carbone PharmD,&nbsp;Tiffany Haynes MD","doi":"10.1016/j.jacl.2025.04.020","DOIUrl":"10.1016/j.jacl.2025.04.020","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Cardiovascular Disease (CVD) risk factors are identifiable in childhood and predict risk of adult CVD. Hyperlipidemia is a modifiable risk factor of atherosclerotic CVD, the leading cause of mortality worldwide. Current pediatric hyperlipidemia guidelines recommend universal pediatric lipid screening for early identification and treatment of pediatric dyslipidemia.</div></div><div><h3>Objective/Purpose</h3><div>The objective of this study was to evaluate the prevalence of universal pediatric lipid screening as recommend by the AAP, AHA and NHLBI for all children at two different time intervals: 9-11 and in 17-21 before and after our quality improvement initiative.</div></div><div><h3>Methods</h3><div>A retrospective chart review was conducted utilizing a Power Business Intelligence (BI) generated report to obtain data from patients seen at pediatric primary care clinics. Lipid screening rates were evaluated for patients ages 9-11 and 17-21 years old in the pre-intervention phase, January 2019-December 2020 and post intervention phase, January 2021-December 2022. QI interventions included provider education at business meetings, grand rounds, and newsletter distribution explaining the rationale for universal screening recommendations.</div></div><div><h3>Results</h3><div>The percentage of total patients with lipid screen increased from a mean of 6.34% during the pre-intervention phase to a mean of 38.35% post intervention. The percentage of patients ages 9-11 with lipid screen increased from a mean of 5.22% pre-intervention to a mean of 20.30% post intervention. The percentage of patients ages 17-21 with lipid screen increased from a mean of 10.44% pre-intervention to 45.32% in post intervention phase.</div></div><div><h3>Conclusions</h3><div>Universal pediatric lipid screening identifies children with dyslipidemia and helps in early detection of genetic conditions like familial hypercholesterolemia (FH), which affects 1 in 250. Relying solely on family history or risk factors misses 30-60% of children with severe dyslipidemia. Reverse cascade testing, where the child is the index case, can also identify older family members with FH. Before the release of the NHLBI 2011 guidelines, studies from three large U.S. health systems found that lipid screening was conducted in only 8.9% of children aged 9 to 11 years and 24.3% of individuals aged 17 to 19 years. In our quality improvement project, pre-intervention data also reflected low screening rates, with 5.22% for the 9-11 age group and 10.44% for the 17-21 age group. Our intervention was introduced with the view that enhancing healthcare professionals' understanding and clarifying the rationale for screening in youth could boost screening rates. This approach led to a post-intervention increase in screening rates to 20.30% (15% increase) for the 9-11 age group and 45.32% for the 17-21 age group (34% increase).</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e14-e15"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168318","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}
引用次数: 0
Impact of polygenic risk score on the use of lipid-lowering therapy in primary prevention for coronary artery disease 多基因风险评分对冠心病一级预防降脂治疗应用的影响
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.033
Pranav Mellacheruvu MD, Nawaz Safdar MD, Rishitha Penmetsa MD, Skyler Burke MD, Maxwell Ambrosino DO, Nasser Monzer MD, Deepak Vedamurthy MD, Daniel Soffer MD, Douglas Jacoby MD, Matthew Sangoi MD
{"title":"Impact of polygenic risk score on the use of lipid-lowering therapy in primary prevention for coronary artery disease","authors":"Pranav Mellacheruvu MD,&nbsp;Nawaz Safdar MD,&nbsp;Rishitha Penmetsa MD,&nbsp;Skyler Burke MD,&nbsp;Maxwell Ambrosino DO,&nbsp;Nasser Monzer MD,&nbsp;Deepak Vedamurthy MD,&nbsp;Daniel Soffer MD,&nbsp;Douglas Jacoby MD,&nbsp;Matthew Sangoi MD","doi":"10.1016/j.jacl.2025.04.033","DOIUrl":"10.1016/j.jacl.2025.04.033","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Polygenic risk scores (PRS) for coronary artery disease (CAD) aggregate the effects of multiple common genetic variants to quantify an individual's inherited risk of cardiovascular disease. Early data suggest PRS enhances traditional risk models by incorporating genetic predisposition, particularly in younger patients or those with borderline-to-intermediate risk, prior to the development of clinical risk factors for CAD. As PRS becomes further validated across diverse populations, its clinical integration may enhance primary prevention and guide early interventions, such as lipid-lowering therapy.</div></div><div><h3>Objective/Purpose</h3><div>We aimed to evaluate how PRS influences the use of lipid-lowering therapy in primary prevention for CAD.</div></div><div><h3>Methods</h3><div>A single-center retrospective study was conducted over one year at a Preventive Cardiology clinic. All consecutive patients without known cardiovascular disease who consented for PRS testing were included. CAD PRS testing was performed by Allelica, Inc. High genetic risk was defined as a PRS ≥ 90% percentile. Pre- and post-PRS data were collected, including lipid profiles, advanced lipid biomarkers, and lipid-lowering therapy (LLT) regimens. Lipid-lowering therapy included statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, and icosapent ethyl.</div></div><div><h3>Results</h3><div>A total of 107 patients who underwent PRS testing were evaluated (median age 51 years; 37.2% Female; 82.2% White). Of the total patients, 20.6% had a high-risk PRS. A change in LLT was observed in 54.5% of high-risk patients, which corresponded to a 36.4% initiation and a 18.2% intensification of prescriptions. High-risk patients had an 18.2% increase in statin prescriptions (RR 1.25; 95% CI: 0.94–1.67; p=0.13) and 22.7% increase in non-statin prescriptions (RR 1.63; 95% CI: 0.85–3.12; p=0.15) after PRS testing. Furthermore, high-risk PRS patients were more likely to be prescribed statins compared to low-risk PRS patients (RR 1.36; 95% CI: 1.11–1.65; p&lt;0.01).</div></div><div><h3>Conclusions</h3><div>Polygenic risk scoring revealed that one-fifth of the patient population had a high genetic risk for CAD, highlighting the residual cardiovascular risk in these individuals. More than half of the high-risk PRS patients had a change in LLT, with a signal toward increased statin and non-statin prescriptions after testing. Lastly, a significantly greater proportion of high-risk PRS patients were prescribed statin therapy compared to low-risk PRS patients, despite a higher rate of pre-PRS prescriptions. While our findings suggest PRS influences LLT for primary prevention of CAD, further investigation is needed to demonstrate statistically robust correlations between PRS and clinical decision-making.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e25"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168617","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}
引用次数: 0
Educating providers about coronary artery calcium scoring testing in atherosclerotic cardiovascular disease risk stratification and racial disparities 在动脉粥样硬化性心血管疾病的风险分层和种族差异中,对提供者进行冠状动脉钙评分测试的教育
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.064
Gurnoor Singh MD, Matthew Shotwell MD, Akruti Prabhakar MD, Andrea Ballinger MD, Dinesh Kalra MD, Manpreet Kaur MD
{"title":"Educating providers about coronary artery calcium scoring testing in atherosclerotic cardiovascular disease risk stratification and racial disparities","authors":"Gurnoor Singh MD,&nbsp;Matthew Shotwell MD,&nbsp;Akruti Prabhakar MD,&nbsp;Andrea Ballinger MD,&nbsp;Dinesh Kalra MD,&nbsp;Manpreet Kaur MD","doi":"10.1016/j.jacl.2025.04.064","DOIUrl":"10.1016/j.jacl.2025.04.064","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Coronary Artery Calcium (CAC) scoring is a valuable modality in evaluating Atherosclerotic Cardiovascular Disease (ASCVD) risk. Despite numerous benefits, many physicians lack familiarity with this modality. Additionally, racial disparities are observed in the utilization of CAC scoring which can potentially affect outcomes.</div></div><div><h3>Objective/Purpose</h3><div>We hypothesized that a focused educational intervention would significantly improve physicians' awareness, knowledge, and utilization of CAC scoring in clinical practice and help in reducing racial disparities. Our initiative through this study aims to improve physicians' understanding and application of CAC scoring and to address racial disparities in CAC scoring.</div></div><div><h3>Methods</h3><div>A pre- and post-intervention study (Image 1) was conducted through a short questionnaire on 49 physicians. The intervention included a 10-minute educational session on CAC scoring and incorporating information on racial disparities. Data was collected through a structured questionnaire both before and after the intervention, and the results were analyzed using descriptive and inferential statistics.</div></div><div><h3>Results</h3><div>We observed a significant increase in the percentage of correct responses from physicians, from an average of 64.35% before the intervention to 87% after the intervention (Image 2). 46 out of 49 physicians felt confident ordering CAC. There was a notable increase in the ordering of CAC post intervention. Additionally, correct responses regarding racial disparities rose significantly, from an average of 25% before the intervention to 88.24% afterward.</div></div><div><h3>Conclusions</h3><div>Our short targeted educational intervention improved physicians' knowledge and confidence in using CAC scoring for ASCVD risk assessment. In addition, it created awareness of racial disparities, leading to more equitable practices.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e48"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168734","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}
引用次数: 0
The challenges of lipoprotein(a) 脂蛋白的挑战(a)
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.046
Christopher Bentsen MD, Alan Brown MD, Kelsey Danley MD
{"title":"The challenges of lipoprotein(a)","authors":"Christopher Bentsen MD,&nbsp;Alan Brown MD,&nbsp;Kelsey Danley MD","doi":"10.1016/j.jacl.2025.04.046","DOIUrl":"10.1016/j.jacl.2025.04.046","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>We present a case of a patient with elevated Lipoprotein(a) [Lp(a)] who was diagnosed 10 years after coronary bypass. He trialed multiple pharmaceutical agents in an attempt to achieve his LDL goal, but had progressive atherosclerosis and recurrent procedures.</div></div><div><h3>Objective/Purpose</h3><div>To highlight the challenges of treating patients with elevated Lp(a) and acknowledge the value of early testing for Lp(a) in patients with a family history of coronary artery disease.</div></div><div><h3>Methods</h3><div>A case report reviewing a patient's clinic visits from 2013 to 2024 via electronic medical records.</div></div><div><h3>Results</h3><div>A 54-year-old male with a history of coronary artery disease with a coronary artery bypass, obstructive sleep apnea, prior smoker, and hypertension presented to clinic for lipid management. His family history showed significant coronary artery disease, including a mother and father who passed from myocardial infarction in their 50s and 60s, two brothers with a coronary artery disease, one with bypass in his 40s, and a sister with a coronary artery bypass in her 60s. His brother discovered that his Lp(a) was elevated. Thus, ten years after his coronary artery bypass, his Lp(a) was tested and found to be elevated at 404 mg/dL (reference range 0-40 mg/dL). Throughout the years he was trialed on multiple statin therapies but had intolerance to these drugs. The use of Ezetimibe and Niacin were added but despite these interventions, he was unable to achieve an LDL threshold of 70 mg/dL consistently. Ten years after the initial bypass, he developed dyspnea. He had a repeat coronary angiogram requiring stenting of the distal left main, proximal LAD, and RCA. He was then started on Evolocumab. His LDL level decreased from 80 mg/dL to 17 mg/dL two months after beginning Evolocumab. His Lp(a) level decreased to 295 mg/dL. Despite these changes, he required laser atherectomy and balloon angioplasty for in-stent restenosis of the RCA. There are currently ongoing trials investigating novel therapies targeting Lp(a) which include an antisense oligonucleotide and small interfering RNAs (siRNA). The patient and his brothers are now enrolled in a clinical outcome trial of a novel Lp(a) lowering therapy to determine if lowering Lp(a) aggressively will decrease cardiovascular events.</div></div><div><h3>Conclusions</h3><div>Early detection of Lp(a) allows for early aggressive cardiovascular risk factor modification and for cascade screening of family members given the autosomal dominant inheritance of elevated Lp(a). New therapies that lower Lp(a) up to 90% hold promise for reducing events in these patients.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e33-e34"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168789","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}
引用次数: 0
Healthcare system level testing for lipoprotein(a) amongst ischemic and cryptogenic stroke patient population 在缺血性和隐源性卒中患者人群中脂蛋白(a)的医疗保健系统水平测试
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.014
Andrew Kao MD, Jianhui Zhu PhD, Brenden Boyle BS, Floyd Thoma BS, Harpreet Bhatia MD, Suresh Mulukutla MD, Matthew Starr MD, Anum Saeed MD, Jacqueline Levene DO
{"title":"Healthcare system level testing for lipoprotein(a) amongst ischemic and cryptogenic stroke patient population","authors":"Andrew Kao MD,&nbsp;Jianhui Zhu PhD,&nbsp;Brenden Boyle BS,&nbsp;Floyd Thoma BS,&nbsp;Harpreet Bhatia MD,&nbsp;Suresh Mulukutla MD,&nbsp;Matthew Starr MD,&nbsp;Anum Saeed MD,&nbsp;Jacqueline Levene DO","doi":"10.1016/j.jacl.2025.04.014","DOIUrl":"10.1016/j.jacl.2025.04.014","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Elevated Lp(a) is associated with the incidence of premature coronary heart disease, aortic stenosis, and ischemic stroke. While its association with strokes secondary to large artery atherosclerosis is robust, data on Lp(a) and its involvement in cryptogenic stroke or embolic stroke of undetermined source (ESUS) is scarce. Even though the National Lipid Association (NLA) recommends Lp(a) testing for all individuals, clinically Lp(a) testing remains limited in stroke patients.</div></div><div><h3>Objective/Purpose</h3><div>This study aims to assess both the frequency at which Lp(a) is checked in patients presenting with ischemic stroke, including cryptogenic stroke, within the University of Pittsburgh Medical Center (UPMC) health system and the association of Lp(a) with cryptogenic stroke.</div></div><div><h3>Methods</h3><div>We queried the UPMC electronic healthcare records (EHR), spanning over 40 hospital and 200 outpatient sites, from 2010 to 2020 to identify individuals with ICD-9 and ICD-10 codes consistent with non-hemorrhagic ischemic strokes and cryptogenic strokes. Demographic, medications, comorbidity, and serologic/biomarker data was additionally obtained within one year of stroke for patients ages 18 – 60 and with ICD-9 or ICD-10 codes for cryptogenic stroke, stroke, ischemic stroke, or cerebral vascular incident. Exclusion criteria includes age &lt; 18 or &gt; 60 or history of hemorrhagic stroke.</div></div><div><h3>Results</h3><div>A total of 14,689 patients met inclusion criteria for this study. 8,395 (57.1%) were male and 6,294 (42.8%) were female. 6,386 individuals (43.4%) had an ischemic stroke based on ICD-9 and ICD-10 diagnosis codes and 8,303 (56.5%) individuals had a cryptogenic stroke based on ICD-9 and ICD-10 diagnosis codes. Of note, 1,262 (8.6%) individuals had a transient ischemic attack based on ICD-9 and ICD-10 diagnosis codes; this diagnosis was included under cryptogenic stroke only. Only 132 (0.9%) individuals had Lp(a) tested: 59 (0.9%) in those with ischemic stroke and 73 (0.9%) in those with cryptogenic stroke (p-value 0.78). The mean Lp(a) value in those with ischemic stroke was 73.0 nmol/L (range 21.0 – 2370.0 nmol/L) and the mean Lp(a) value in those with cryptogenic stroke was 44.0 nmol/L (range 17.0 – 174.0 nmol/L) (p-value 0.262).</div></div><div><h3>Conclusions</h3><div>Our study demonstrates that despite the NLA's societal recommendation for universal Lp(a) testing, Lp(a) remains undertested in a high risk stroke population within a large health system spanning rural and urban areas. Given the small numbers in this population, an ongoing, prospective arm to this study has been designed to evaluate Lp(a) in patients presenting with cryptogenic stroke.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e9-e11"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167875","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}
引用次数: 0
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