Journal of clinical lipidology最新文献

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Early Triple Lipid-Lowering Therapy in Acute Coronary Syndrome: Results from the multicentric LAI-REACT Study 急性冠脉综合征早期三重降脂治疗:来自多中心LAI-REACT研究的结果
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.017
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
{"title":"Early Triple Lipid-Lowering Therapy in Acute Coronary Syndrome: Results from the multicentric LAI-REACT Study","authors":"Kunal Mahajan MD,&nbsp;Rajeev Agarwala MD,&nbsp;Aziz Khan MD,&nbsp;Ashu Gupta MD,&nbsp;Aditya Batra MD,&nbsp;Vinod Vijan MD,&nbsp;Jaibharat Sharma MD,&nbsp;Surender Himral MD,&nbsp;S Iyengar MD,&nbsp;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&lt;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&lt;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 &lt;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 &lt;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}
引用次数: 0
Loss of lipid-lowering effect of evolocumab over time: A case report 随着时间的推移,evolocumab降脂效果的丧失:一个病例报告
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.051
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,&nbsp;Nataliya Pyslar MD,&nbsp;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}
引用次数: 0
Impact of value-based comprehensive medication management on statin prescribing in patients with type 2 diabetes mellitus 基于价值的综合用药管理对2型糖尿病患者他汀类药物处方的影响
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.04.077
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,&nbsp;Deborah Rodgers RN,&nbsp;Mark Calderon MD,&nbsp;Scott Maron MD,&nbsp;John Vigorita MD,&nbsp;James Barr MD,&nbsp;Thomas Kloos MD,&nbsp;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}
引用次数: 0
Lipid-lowering efficacy of obicetrapib: A comprehensive systematic review and meta-analysis obicetrapib的降脂效果:一项全面的系统评价和荟萃分析。
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2024.12.016
Walter Masson MD , Leandro Barbagelata MD , Martin Lobo MD , Juan Patricio Nogueira MD, PhD , Yehuda Handelsman MD
{"title":"Lipid-lowering efficacy of obicetrapib: A comprehensive systematic review and meta-analysis","authors":"Walter Masson MD ,&nbsp;Leandro Barbagelata MD ,&nbsp;Martin Lobo MD ,&nbsp;Juan Patricio Nogueira MD, PhD ,&nbsp;Yehuda Handelsman MD","doi":"10.1016/j.jacl.2024.12.016","DOIUrl":"10.1016/j.jacl.2024.12.016","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Obicetrapib is a next-generation, oral, selective cholesteryl ester transfer protein inhibitor known to significantly affect atherogenic lipoproteins, including low-density lipoprotein cholesterol (LDL-C), apolipoprotein B (ApoB), nonhigh-density lipoprotein cholesterol (Non-HDL-C), and lipoprotein(a) [Lp(a)].</div></div><div><h3>OBJECTIVE</h3><div>To evaluate the lipid-lowering efficacy of obicetrapib based on available evidence.</div></div><div><h3>METHODS</h3><div>This systematic review was drafted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A comprehensive literature search was conducted to identify randomized clinical trials assessing the lipid-lowering effects of obicetrapib compared to placebo. Fixed and random-effects models were used.</div></div><div><h3>RESULTS</h3><div>Five randomized clinical trials (<em>n</em> = 288 patients) were included in this analysis. Patients treated with obicetrapib exhibited significantly greater reductions in LDL-C (mean difference [MD]: 41.4% [95% CI: 45.7 to −37.1]; I²: 6%), ApoB (MD: 26.5% [95% CI: 31.3 to −21.6]; I²: 45%), and Non-HDL-C (MD: 34.5% [95% CI: 37.0 to −31.6]; I²: 80%) compared to those receiving a placebo. Additionally, HDL-C levels were significantly higher in the obicetrapib group (MD: 157.4% [95% CI: 142.2 to 172.6]; I²: 69%). While triglyceride levels did not differ significantly between the 2 groups, Lp(a) levels were notably reduced with obicetrapib treatment (MD: 39.5% [95% CI: 54.6 to −24.3]; I²: 67%).</div></div><div><h3>CONCLUSION</h3><div>Obicetrapib is associated with significant reductions in key atherogenic lipoproteins, including LDL-C, ApoB, Non-HDL-C and Lp(a). Further investigation is needed to assess its impact on cardiovascular risk.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 412-421"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074741","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
Modifications on lipid profile and high-density lipoprotein function related to treatment with tofacitinib in female patients with rheumatoid arthritis: Impact of previous therapy with biological agents 托法替尼治疗对女性类风湿关节炎患者血脂和高密度脂蛋白功能的影响:既往生物制剂治疗的影响
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.02.013
Eliana Elizabeth Botta PhD , Florencia Pierini MD , Maximiliano Martin PhD , Osvaldo Cerda MD , Ezequiel Lozano Chiappe Bioch , Gustavo Citera MD , Belén Davico Bioch , Ignacio Gandino MD , Walter Tetzlaff PhD , Tomás Meroño PhD , María Soledad Sáez PhD , Amanda Yanez Bioch , Wilfried Le Goff PhD , Javier Rosa MD , Anatol Kontush PhD , Leonardo Gómez Rosso PhD , Enrique R. Soriano MD , Fernando Brites PhD
{"title":"Modifications on lipid profile and high-density lipoprotein function related to treatment with tofacitinib in female patients with rheumatoid arthritis: Impact of previous therapy with biological agents","authors":"Eliana Elizabeth Botta PhD ,&nbsp;Florencia Pierini MD ,&nbsp;Maximiliano Martin PhD ,&nbsp;Osvaldo Cerda MD ,&nbsp;Ezequiel Lozano Chiappe Bioch ,&nbsp;Gustavo Citera MD ,&nbsp;Belén Davico Bioch ,&nbsp;Ignacio Gandino MD ,&nbsp;Walter Tetzlaff PhD ,&nbsp;Tomás Meroño PhD ,&nbsp;María Soledad Sáez PhD ,&nbsp;Amanda Yanez Bioch ,&nbsp;Wilfried Le Goff PhD ,&nbsp;Javier Rosa MD ,&nbsp;Anatol Kontush PhD ,&nbsp;Leonardo Gómez Rosso PhD ,&nbsp;Enrique R. Soriano MD ,&nbsp;Fernando Brites PhD","doi":"10.1016/j.jacl.2025.02.013","DOIUrl":"10.1016/j.jacl.2025.02.013","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Tofacitinib, a Janus kinase inhibitor, has been associated with increased cardiovascular (CV) risk in rheumatoid arthritis (RA). This study evaluated tofacitinib's effects on lipid parameters and the impact of prior biological agents’ therapy in RA patients.</div></div><div><h3>METHODS</h3><div>Thirty female RA patients starting tofacitinib were assessed at baseline and after 3 months. Clinical assessments, health assessment questionnaire (HAQ), disease activity score 28 (DAS28), inflammatory markers, lipid profile, oxidized low-density lipoprotein (LDL), activities of paraoxonase 1 (PON 1), lipoprotein-associated phospholipase A<sub>2</sub> (Lp-PLA<sub>2</sub>), cholesteryl ester transfer protein (CETP), high-density lipoprotein (HDL) composition, and HDL functions (cholesterol efflux and free cholesterol uptake from triglyceride-rich lipoproteins [TGRL]) upon lipolysis were measured.</div></div><div><h3>RESULTS</h3><div>After 3 months, HAQ and DAS28 scores improved significantly. Total cholesterol (TC), HDL-C, non-HDL-C, and HDL capacity to acquire free cholesterol from TGRL increased, while enzyme activities and cholesterol efflux capacity remained unchanged. At baseline, patients with prior biological therapy (n = 19) had lower triglycerides, TC, non-HDL-C, and apolipoprotein (apo) B compared to biologic-naïve patients (n = 11). This group exhibited no lipid changes after tofacitinib, whereas biologic-naïve patients showed atherogenic increases in TC, LDL-C, non-HDL-C, apo B, Lp-PLA<sub>2</sub>, and CETP, alongside beneficial increases in PON 1 activity.</div></div><div><h3>CONCLUSION</h3><div>Tofacitinib improved disease activity and functional status in RA patients with minimal lipid changes. Patients previously treated with biological agents experienced no significant lipid alterations, while biologic-naïve patients showed atherogenic lipid changes and increased PON 1 activity. Prior biologic therapy may confer a more favorable CV profile before and after tofacitinib treatment.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 659-669"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710063","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 cholesterol management in high-risk primary prevention patients: An evidence-based case series 改善高危初级预防患者的胆固醇管理:循证病例系列
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.02.017
Tyler J. Schubert BA , Caroline deRichemond CRNP , Dean G. Karalis MD , Laney K. Jones PharmD, MPH
{"title":"Improving cholesterol management in high-risk primary prevention patients: An evidence-based case series","authors":"Tyler J. Schubert BA ,&nbsp;Caroline deRichemond CRNP ,&nbsp;Dean G. Karalis MD ,&nbsp;Laney K. Jones PharmD, MPH","doi":"10.1016/j.jacl.2025.02.017","DOIUrl":"10.1016/j.jacl.2025.02.017","url":null,"abstract":"<div><div>The National Lipid Association (NLA) is currently conducting a study to improve the uptake of evidence-based guidelines into clinical practice through the deployment of case-based online learning modules to participating health systems nationwide. The Translating Evidence-based Approaches into optimal Care of High-risk Atherosclerotic Cardiovascular Disease patients (TEACH-ASCVD) will evaluate the impact of electronic learning modules on clinician practices related to ASCVD management. In the design phase of TEACH-ASCVD, expert lipidologists created a series of 7 cases informed by recent guidelines intended to provide common clinical scenarios that evaluate participant knowledge of evidence-based practices for high-risk ASCVD and familial hypercholesterolemia. In this manuscript, we present 4 primary prevention-focused cases in high-risk patients and discuss pertinent clinical teaching points. These cases are intended for individuals with clinical lipidology training. We encourage lipidologists to disseminate this manuscript and utilize these cases as a teaching tool for nonlipid specialists to hone their knowledge of common clinical ASCVD risk management scenarios.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 707-713"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633968","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
Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications 土耳其队列家族性高胆固醇血症遗传背景调查及其临床意义
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.02.016
Erdem Kındış MD , Sevda Aygün MD , Banu Ertürk MD , Serkan Kabaçam BSc , Naz Güleray Lafcı MD , Lale Tokgözoğlu MD , Mehmet Alikaşifoğlu MD, PhD
{"title":"Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications","authors":"Erdem Kındış MD ,&nbsp;Sevda Aygün MD ,&nbsp;Banu Ertürk MD ,&nbsp;Serkan Kabaçam BSc ,&nbsp;Naz Güleray Lafcı MD ,&nbsp;Lale Tokgözoğlu MD ,&nbsp;Mehmet Alikaşifoğlu MD, PhD","doi":"10.1016/j.jacl.2025.02.016","DOIUrl":"10.1016/j.jacl.2025.02.016","url":null,"abstract":"<div><h3>OBJECTIVE</h3><div>Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma cholesterol and an increased risk of early-onset coronary artery disease (CAD). FH has a complex genetic basis. Advances in molecular genetic techniques have deepened our understanding of FH, which is critical for accurate classification, CAD risk assessment, and optimized treatment strategies. This study aimed to evaluate the monogenic etiologies of FH and polygenic background as a possible cause of clinical FH phenotype and their relationship to clinical outcomes in a Turkish cohort.</div></div><div><h3>METHODS</h3><div>Patients were selected based on the Simon Broome Criteria. Various molecular techniques were employed, including Sanger sequencing, multiplex-ligation dependent probe amplification (MLPA), next-generation sequencing (NGS) panel analysis, and RNA-based studies. For the first time in a Turkish FH cohort, we calculated 6-single nucleotide polymorphism (SNP) and 12-SNP scores and compared them with a control group.</div></div><div><h3>RESULTS</h3><div>Multiple variants were identified, including 2 novel variants and a synonymous splice region variant in <em>LDLR</em>, which was shown to disrupt splicing through RNA analysis. The 6-SNP and 12-SNP scores displayed patterns consistent with other populations.</div></div><div><h3>CONCLUSION</h3><div>Our findings suggest subtle differences in the monogenic etiology of FH in the Turkish population, with variant negative patients predominantly exhibiting polygenic background. Additionally, polygenic factors appear to influence the phenotype even in variant-positive individuals.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 572-581"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742951","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
Epidemiology and longitudinal course of chylomicronemia: Insights from NHANES and a large health care system 乳糜微粒血症的流行病学和纵向病程:来自NHANES和大型卫生保健系统的见解。
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.02.008
Seyedmohammad Saadatagah MD , Mohammadreza Naderian MD, MPH , Miriam Larouche MSc , Daniel Gaudet MD, PhD , Iftikhar J. Kullo MD , Christie M. Ballantyne MD
{"title":"Epidemiology and longitudinal course of chylomicronemia: Insights from NHANES and a large health care system","authors":"Seyedmohammad Saadatagah MD ,&nbsp;Mohammadreza Naderian MD, MPH ,&nbsp;Miriam Larouche MSc ,&nbsp;Daniel Gaudet MD, PhD ,&nbsp;Iftikhar J. Kullo MD ,&nbsp;Christie M. Ballantyne MD","doi":"10.1016/j.jacl.2025.02.008","DOIUrl":"10.1016/j.jacl.2025.02.008","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Chylomicronemia is characterized by fasting triglyceride (TG) ≥1000 mg/dL; its longitudinal course is not well studied.</div></div><div><h3>METHODS</h3><div>Using National Health and Nutrition Examination Survey (NHANES) data (1999-2018; <em>n</em> = 21,998), we determined chylomicronemia prevalence and temporal trend. Using Mayo Clinic data (4,524,506 TG measurements for 1,294,044 individuals), we studied the longitudinal course and ascertained persistent chylomicronemia (PC), defined as TG ≥1000 mg/dL in more than half the measurements for individuals with ≥3 measurements. We used logistic regression to assess factors associated with PC.</div></div><div><h3>RESULTS</h3><div>In NHANES, the prevalence of chylomicronemia was 0.20% overall, with higher prevalence in men (0.32%) and Hispanics (0.33%). Chylomicronemia prevalence declined from 0.34% in 1999-2004 to 0.11% in 2013-2018, while lipid-lowering pharmacotherapy use in chylomicronemia patients increased from 5.3% to 51.9%. In the Mayo Clinic data, 5618 individuals (0.43%) had at least 1 episode of chylomicronemia. Of these, 8.8% (390 of 4443 with ≥3 measurements) met the operational definition for PC. In individuals with TG &lt;150 mg/dL, 1.3% had a diagnosis of acute pancreatitis, and 0.6% had chronic pancreatitis. Respective figures for individuals with nonpersistent chylomicronemia were 12.5% and 5.1%, and for individuals with PC were 26.2% and 11.5%. Younger age, Hispanic ethnicity, prior pancreatitis, and higher TG levels were associated with PC.</div></div><div><h3>CONCLUSION</h3><div>In the US, 1 in ∼500 adults has chylomicronemia and 1 in ∼5500 has PC. Individuals with PC have high occurrence of acute and chronic pancreatitis and may need more effective treatment.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 432-441"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742917","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
Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy 用酶替代疗法治疗胆固醇酯淤积症的成功妊娠结局。
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.01.001
Nao Konagai MD, PhD , Naoko Iwanaga MD, PhD , Manabu Minami MD, PhD , Jun Yoshimatsu MD, PhD
{"title":"Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy","authors":"Nao Konagai MD, PhD ,&nbsp;Naoko Iwanaga MD, PhD ,&nbsp;Manabu Minami MD, PhD ,&nbsp;Jun Yoshimatsu MD, PhD","doi":"10.1016/j.jacl.2025.01.001","DOIUrl":"10.1016/j.jacl.2025.01.001","url":null,"abstract":"<div><div>Cholesteryl ester storage disease (CESD) is a rare autosomal recessive metabolic disorder resulting from a deficiency of lysosomal acid lipase (LAL). It is characterized by the accumulation of cholesterol esters in various tissues, leading to atherosclerotic diseases or severe hepatic dysfunction in younger individuals. Pregnancy has remained an essential challenge for women with CESD because of the poor prognosis. Enzyme replacement therapy (ERT) using sebelipase alfa, a recombinant form of LAL, is effective in improving lipid profiles and reversing liver dysfunction in patients with CESD. This novel therapy may facilitate safer pregnancy outcomes. This report details the experience of a 30-year-old pregnant woman with CESD who received ERT. Given the absence of CESD complications, colestimide was the only medication administered during pregnancy. The patient had a full-term vaginal delivery with no obstetric complications or fetal congenital anomalies. Following delivery, transient triglycerides, low-density lipoprotein-cholesterol, and liver enzyme increases were observed. However, restarting ERT led to a gradual improvement in the liver function and lipid profile.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 714-717"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573223","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
Association between remnant cholesterol and culprit vessel physiological features in patients with acute coronary syndrome: An optical coherence tomography study 急性冠脉综合征患者残余胆固醇与罪魁祸首血管生理特征的关系:一项光学相干断层扫描研究
IF 3.6 3区 医学
Journal of clinical lipidology Pub Date : 2025-05-01 DOI: 10.1016/j.jacl.2025.03.010
Shitao Luo BS , Shuangya Yang MD , Li Pan BS, Ning Gu MD, Deguang Yang BS, Xiushi Li BS, Zaili Lu BS, Ranzun Zhao MD, Bei Shi MD
{"title":"Association between remnant cholesterol and culprit vessel physiological features in patients with acute coronary syndrome: An optical coherence tomography study","authors":"Shitao Luo BS ,&nbsp;Shuangya Yang MD ,&nbsp;Li Pan BS,&nbsp;Ning Gu MD,&nbsp;Deguang Yang BS,&nbsp;Xiushi Li BS,&nbsp;Zaili Lu BS,&nbsp;Ranzun Zhao MD,&nbsp;Bei Shi MD","doi":"10.1016/j.jacl.2025.03.010","DOIUrl":"10.1016/j.jacl.2025.03.010","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Remnant cholesterol (RC) in triglyceride-rich lipoproteins (TRLs) is strongly associated with atherosclerotic cardiovascular disease (ASCVD). However, its relationship with the physiological features of the culprit vessel in patients following acute coronary syndrome (ACS) remains unclear.</div></div><div><h3>OBJECTIVE</h3><div>To explore the relationships between RC and the culprit vessel physiological features in ACS patients.</div></div><div><h3>METHODS</h3><div>This study retrospectively enrolled 657 patients with ACS who underwent optical coherence tomography (OCT) examination. The patients were divided into 3 groups based on RC tertiles. OCT images were analyzed using OCT automatic recognition software, which identified plaque composition, minimum lumen area (MLA), minimum fibrous cap thickness, maximum lipid angle, and a functional parameter, the optical flow ratio (OFR).</div></div><div><h3>RESULTS</h3><div>Patients with higher RC levels exhibited larger lipid plaque volumes (22.43 vs 26.20 vs 29.53; <em>P</em> = .002) and lower OFR (0.74 vs 0.82 vs 0.84; <em>P</em> &lt; .001) compared to those with lower RC levels. Elevated RC was identified as an independent predictor of OFR ≤0.8 (odds ratio per 1-unit increase: 2.364, 95% CI: 1.491-3.748, <em>P</em> &lt; .001). Incorporating RC into a baseline model enhanced its predictive value for OFR ≤0.8, increasing the area under the curve (AUC) from 0.641 (95% CI: 0.598-0.683) to 0.720 (95% CI: 0.681-0.758; <em>P</em> &lt; .001).</div></div><div><h3>CONCLUSIONS</h3><div>There is a significantly positive relationship between the RC and potentially severe myocardial ischemia and the vulnerable plaques in patients with ACS.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages 486-497"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995660","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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