Journal of clinical lipidology最新文献

{"title":"Cardiovascular disease and cholesterol lowering therapy in women and men with molecularly defined heterozygous familial hypercholesterolemia from Brazil","authors":"Kleisson P. Maia MD, MSc ,&nbsp;Márcio H. Miname MD, PhD ,&nbsp;Flávia P. Maia MD, MSc ,&nbsp;Marcio S. Bittencourt MD, PhD, MPH ,&nbsp;Marjorie H. Mizuta MD ,&nbsp;Viviane Z. Rocha MD, PhD ,&nbsp;Ana Paula Marte MD, PhD ,&nbsp;Cinthia E. Jannes PhD ,&nbsp;Alexandre C. Pereira MD, PhD ,&nbsp;José E. Krieger MD, PhD ,&nbsp;Raul D. Santos MD, PhD, MSc","doi":"10.1016/j.jacl.2025.05.006","DOIUrl":"10.1016/j.jacl.2025.05.006","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Data on the epidemiology of familial hypercholesterolemia (FH) in developing regions based on contemporary, molecularly defined FH cohorts categorized by sex are scarce.</div></div><div><h3>OBJECTIVE</h3><div>Evaluate the differences in cardiovascular disease (CVD) outcomes and lipid-lowering therapy (LLT) between men and women with molecularly defined heterozygous FH participating in a cascade screening program.</div></div><div><h3>METHODS</h3><div>We included 794 adult FH patients (age 47 ± 15 years, 56.8% women). The median follow-up was 59.0 (IQR 32.5-86.0) months.</div></div><div><h3>RESULTS</h3><div>At baseline, there were no sex differences regarding genetic defects, low-density lipoprotein cholesterol (LDL-C) years score (12,687± 6047 and 13,011 ± 6576 in men and women, <em>P</em> = .477), and intensive LLT use (74.7% and 75.1% in men and women; <em>P</em> = .915). Men had a higher frequency of prior CVD, 30.4% vs 13.8% (<em>P</em> &lt; .001). During follow-up, men and women were treated similarly with intensive LLT (88.6% and 87.8%; <em>P</em> = .983); however, most participants remained with elevated LDL-C concentrations. The rate of events (1000 patient-years) was 34.40 (95% CI: 26.21-45.15) and 17.69 (95% CI: 13.03-24.03) for men and women, respectively (<em>P</em> = .001). Current smoking (hazard ratio [HR]: 3.058, 95% CI: 1.597-5.885, <em>P</em> &lt; .001), corneal arcus (HR: 1.763, 95% CI: 1.092-2.847, <em>P</em> = .02), prior CVD (HR: 1.704, 95% CI: 1.006-2.887, <em>P</em> = .048), triglycerides (HR: 1.002, 95% CI 1.000-1.003, <em>P</em> = .008) and high-density lipoprotein cholesterol (HR: 0.975, 95% CI: 0.953-0.998, <em>P</em> = .033) were independently associated with incident events.</div></div><div><h3>CONCLUSIONS</h3><div>Men with FH were at a higher and earlier CVD risk than women; there was no difference in treatment intensity, with most patients remaining with high LDL-C.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1044-1054"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659356","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":"Discontinuation of lipid-modifying agents and failure to achieve target LDL cholesterol levels across cardiovascular risk groups","authors":"Zhomart Orman PhD ,&nbsp;Jia Wei Koh PhD ,&nbsp;Caroline Trin MPH ,&nbsp;Zanfina Ademi PhD ,&nbsp;Ella Zomer PhD ,&nbsp;Sally Green PhD ,&nbsp;Danielle Berkovic PhD ,&nbsp;Jenni Ilomaki PhD ,&nbsp;J. Simon Bell PhD ,&nbsp;Danny Liew PhD ,&nbsp;Christopher M. Reid PhD ,&nbsp;Sean Lybrand MPH ,&nbsp;Brittany Schoeninger BE ,&nbsp;Stella Talic PhD","doi":"10.1016/j.jacl.2025.06.010","DOIUrl":"10.1016/j.jacl.2025.06.010","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Low-density lipoprotein cholesterol (LDL-C) control remains suboptimal, with limited evidence on how adherence to lipid-modifying agents (LMAs) varies by atherosclerotic cardiovascular disease (ASCVD) risk.</div></div><div><h3>OBJECTIVE</h3><div>To examine the relationship between LDL-C levels, adherence to LMAs, and ASCVD risk.</div></div><div><h3>METHODS</h3><div>Adults (n = 4,262) prescribed LMAs between 2013 and 2023 (median age 60 years, 49% male) were categorized into low (&lt;5%), borderline (5% to &lt;7.5%), intermediate (7.5% to &lt;20%), and high (≥20%) 10-year ASCVD risk groups. Adherence was defined as having ≥1 prescription of LMA every 6 months, with adherence trajectories identified over 5 years using group-based trajectory analysis: gradual decline, rapid decline, and early discontinuation.</div></div><div><h3>RESULTS</h3><div>Average LDL-C decreased from 3.6 ± 1.1 mmol/L (139.2 ± 42.5 mg/dL) to 2.7 ± 1.1 mmol/L (104.4 ± 42.5 mg/dL) across all risk groups, with only 23% achieving &lt;1.8 mmol/L (69.6 mg/dL) and 18% achieving ≥50% reduction. LDL-C was highest in the early discontinuation trajectory, across all ASCVD risk groups, averaging 2.9 mmol/L (112.1 mg/dL) in the low ASCVD risk group (42%), 2.8 mmol/L (108.3 mg/dL) in the borderline (13%), 2.5 mmol/L (96.7 mg/dL) in the intermediate (33%), and 2.3 mmol/L (88.9 mg/dL) in the high-risk group (11%). Higher LDL-C was associated with younger age, being male, non-smoking status, absence of diabetes, untreated blood pressure, early LMA discontinuation, higher total cholesterol ratio, and lower high-density lipoprotein cholesterol.</div></div><div><h3>CONCLUSION</h3><div>Long-term adherence to LMAs remains a challenge, particularly in low-risk. Target achievement was poor, highlighting gaps in therapeutic optimization, patient engagement, and monitoring.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 835-843"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659357","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":"Clinical case series: Spontaneous coronary artery dissection with thrombosis among young individuals with high lipoprotein(a)","authors":"Agnes Koczo MD,&nbsp;Brent Medoff,&nbsp;Josh E. Levenson MD,&nbsp;Anum Saeed MD","doi":"10.1016/j.jacl.2025.04.187","DOIUrl":"10.1016/j.jacl.2025.04.187","url":null,"abstract":"<div><div>Young individuals who present with acute coronary syndrome<span> (ACS) are often devoid of typical traditional atherosclerotic risk factors. As such, they pose challenges to risk stratify for diagnostic imaging and for pathogenetic etiology. We describe 2 patients who presented with ACS and found to have spontaneous coronary artery dissection with thrombosis without significant atherosclerotic burden, but high lipoprotein(a) levels.</span></div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1148-1152"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078354","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":"Using healthcare claims data to identify health disparities for individuals with familial hypercholesterolemia","authors":"Mary P. McGowan MD ,&nbsp;Chao Xing PhD ,&nbsp;Amit Khera MD ,&nbsp;Chun-Yuan Huang MS ,&nbsp;Yanqiu Shao PhD ,&nbsp;Michelle Xing ,&nbsp;Eric J. Brandt MD, MHS ,&nbsp;Diane E. MacDougall MS ,&nbsp;Catherine D. Ahmed BS ,&nbsp;Katherine A. Wilemon BS ,&nbsp;Zahid Ahmad MD","doi":"10.1016/j.jacl.2025.04.199","DOIUrl":"10.1016/j.jacl.2025.04.199","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Intensive lipid-lowering therapy is crucial for individuals with familial hypercholesterolemia (FH) to reach target low-density lipoprotein cholesterol (LDL-C) levels. However, there are limited data on disparities in therapy use among FH patients in the US.</div></div><div><h3>METHODS</h3><div>An epidemiologic analysis of a US healthcare claims database (2016-2020) covering 324 million individuals. Inclusion criteria for this study comprised of individuals with a diagnosis of FH, defined by an ICD-10 diagnosis code of E.78.01. The G-computation approach based on multiple logistic regression models was used to estimate the marginal effects of demographic and socioeconomic variables on prescriptions for high-intensity statins, ezetimibe, and proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i).</div></div><div><h3>RESULTS</h3><div>In the FH cohort (n = 85,457), 45.9% were female, 79.4% identified as White, 12.2% as Black, and 8.4% as Hispanic. Males were more likely to be prescribed high-intensity statins than females: risk difference (RD) [95% CI] = 0.091 [0.086, 0.096]; odds ratio (OR) [95% CI] = 2.03 [1.95, 2.11]. White individuals were more likely to get ezetimibe, PCSK9i, or combination therapy compared to Black individuals (RDs: 0.006-0.041; ORs: 1.22-1.32). Higher income was associated with increased odds of receiving these treatments (RDs: 0.005-0.060 and ORs: 1.17-1.58 for incomes &gt;$50,000). Higher education was linked to a higher likelihood of receiving these treatments (RDs: 0.004-0.038 and ORs: 1.06-1.49 for education levels of some college and higher).</div></div><div><h3>CONCLUSION</h3><div>These findings highlight significant disparities, with more intensive lipid-lowering therapies prescribed to White, higher-income, and better-educated individuals. This underscores the need for equitable cardiovascular risk reduction strategies for all FH patients.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1020-1028"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302203","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":"Characterization of familial chylomicronemia syndrome in a compound heterozygote for 2 APOA5 nonsense variants","authors":"Paul A. Mueller PhD ,&nbsp;Sara Rosario MS ,&nbsp;Joshua Hay MS ,&nbsp;Paige Bergstrom BS ,&nbsp;Silvia Cecilia Pacheco-Velázquez PhD ,&nbsp;Robert A. Hegele MD ,&nbsp;Nathalie Pamir PhD ,&nbsp;Jonathan Q. Purnell MD","doi":"10.1016/j.jacl.2025.04.196","DOIUrl":"10.1016/j.jacl.2025.04.196","url":null,"abstract":"<div><h3>OBJECTIVE</h3><div>A 3-year-old patient presented with severe hypertriglyceridemia and suspected familial chylomicronemia syndrome. Genetic analysis of the patient’s DNA revealed the presence of 2 different heterozygous nonsense variants in the <em>APOA5</em> gene encoding apolipoprotein (apo) A-V, namely p.Q275X and p.L242C fs X54. Our objective was to characterize the structural and functional consequences of the patient’s co-occuring compound heterozygous variants in <em>APOA5</em>.</div></div><div><h3>METHODS</h3><div>Biozentrum’s SWISS-MODEL was employed to predict the structure of apo A-V variants. Plasma from the patient and their family was used to determine lipid profiles, quantify apo C-II and apo C-III protein levels, and measure lipoprotein lipase (LPL) activity. High-density lipoprotein (HDL) was isolated from plasma and was used to assess sterol efflux capacity and proteome.</div></div><div><h3>RESULTS</h3><div>Structural characterization of the patient’s <em>APOA5</em> variants indicated premature truncation of the C-terminus of apo A-V that comprises the lipid binding domain. The patient’s apo A-V was completely absent from the very-low density lipoprotein (VLDL) plasma fraction, associating almost exclusively with the low-density lipoprotein (LDL) and lipoprotein-free fractions. The patient’s plasma also demonstrated reduced LPL activity and elevated apo C-II and C-III compared to other family members. The patient’s HDL had the lowest sterol efflux capacity of all family members and a distinct proteome with reduced phospholipid transfer protein. Dietary intervention alone was effective in preventing recurring hypertriglyceridemia.</div></div><div><h3>CONCLUSIONS</h3><div>These findings add to the current knowledge of apo A-V’s role in plasma lipid homeostasis, pointing to a critical role for apo A-V binding to the lipoprotein particle in normal hydrolysis of triglyceride-rich lipoproteins.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1091-1100"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275005","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":"Effects of dietary cholesterol and eggs on circulating low-density lipoprotein cholesterol: Old news from a new study","authors":"P. Barton Duell MD, MNLA,&nbsp;Kevin C. Maki PhD, MNLA","doi":"10.1016/j.jacl.2025.08.008","DOIUrl":"10.1016/j.jacl.2025.08.008","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 719-722"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144917608","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":"Lipoprotein X – Pathophysiology, diagnosis, and management","authors":"Dinesh K. Kalra MD, FNLA ,&nbsp;Matthew Shotwell MD ,&nbsp;Abhimanyu Garg MD ,&nbsp;P. Barton Duell MD, FNLA ,&nbsp;Don P. Wilson MD, FNLA ,&nbsp;Seth S. Martin MD ,&nbsp;Daniel E. Soffer MD, FNLA, MHS ,&nbsp;Robert S. Rosenson MD ,&nbsp;Michael D. Shapiro DO ,&nbsp;Zahid Ahmad MD, FNLA ,&nbsp;James Underberg MD, FNLA ,&nbsp;Laurence Sperling MD ,&nbsp;Saeed A. Jortani PhD ,&nbsp;Alan Remaley MD, PhD","doi":"10.1016/j.jacl.2025.05.015","DOIUrl":"10.1016/j.jacl.2025.05.015","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Lipoprotein X (LpX) was first discovered in the 1960s in patients with severe cholestatic diseases as an abnormal lipoprotein that is distinct from other lipoproteins because it is not produced through regulated pathways, contains albumin as the primary protein, and is rich in free cholesterol (FC) and phospholipids. Over the next few decades, its biochemical properties and composition were characterized.</div></div><div><h3>SOURCES OF MATERIAL</h3><div>Elevated blood levels of LpX are now also known to occur in various other conditions, such as lecithin cholesterol acyltransferase (LCAT) deficiency, graft versus host disease, and after lipid infusions for nutritional support. LpX cannot be measured by conventional testing with a standard lipid panel. The cholesterol content of LpX is included in total cholesterol (TC) and misreported as elevated low-density lipoprotein cholesterol (LDL-C) – this is due to similar densities of LpX and LDL on ultracentrifugation. Typically, the elevations are severe in magnitude, to the extent that the standard lipid panel can look similar to a patient with homozygous familial hypercholesterolemia.</div></div><div><h3>ABSTRACT OF FINDINGS</h3><div>When LpX is clinically suspected, laboratory testing with measurements of apolipoprotein B, nuclear magnetic resonance (NMR) spectroscopy, lipoprotein gel electrophoresis, or measurement of FC is required to distinguish elevated levels of LpX from other forms of hypercholesterolemia, such as familial hypercholesterolemia. Being an uncommon disorder with an estimated prevalence of 0.02% to 0.09%, if LpX is not considered in the differential diagnosis, the presence of falsely reported levels of elevated LDL-C and low levels of high-density lipoprotein cholesterol (HDL-C) may mimic an atherogenic phenotype, leading to treatment with lipid-lowering therapy.</div></div><div><h3>CONCLUSION</h3><div>Rather than atherosclerosis, patients with increased blood LpX levels are at risk of other complications, including hyperviscosity syndrome and xanthomatosis. The usual lipid-lowering drugs do not effectively lower elevated LpX levels; thus, treatment is primarily directed at the underlying disease, with plasma exchange being reserved for hyperviscosity syndrome. This review discusses the biology, pathogenesis, clinical features, diagnosis, and management of elevated LpX levels.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 759-774"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484565","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":"Corrigendum to Lipoprotein particle profile in the presence of peripheral artery disease among patients with coronary heart disease: Data from the CORDIOPREV study, Journal of Clinical Lipidology 19 (2025) 256–266","authors":"Silvia de la Cruz-Ares PhD ,&nbsp;María del Pilar Coronado-Carvajal BS ,&nbsp;Oriol Alberto Rangel-Zúñiga PhD ,&nbsp;José David Torres-Peña PhD, MD ,&nbsp;Antonio Pablo Arenas-de Larriva PhD, MD ,&nbsp;Alejandro López-Moreno MD ,&nbsp;Niki Katsiki MSc,PhD, MD ,&nbsp;José María Ordovás PhD, MD ,&nbsp;Javier Delgado-Lista PhD, MD ,&nbsp;Pablo Pérez-Martínez PhD, MD ,&nbsp;Francisco Miguel Gutiérrez-Mariscal PhD ,&nbsp;José López-Miranda PhD, MD","doi":"10.1016/j.jacl.2025.05.001","DOIUrl":"10.1016/j.jacl.2025.05.001","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Page 1184"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142621","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":"Global trends in sitosterolemia research: A bibliometric and visualization analysis","authors":"Hui Wu BM ,&nbsp;Yinfei Xu MM ,&nbsp;Rong Cheng MM ,&nbsp;Haoyang Zhou BM ,&nbsp;Ying Li BM ,&nbsp;Ziyi Lu BM ,&nbsp;Cheng Zhang MM ,&nbsp;Chunyu Li MM ,&nbsp;Yan Chen MD","doi":"10.1016/j.jacl.2025.04.201","DOIUrl":"10.1016/j.jacl.2025.04.201","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Sitosterolemia is a rare autosomal recessive genetic lipid metabolism disorder characterized by high concentrations of plant sterols in plasma and tissues, which can cause a variety of clinical symptoms, such as xanthomatosis, atherosclerosis, and arthritis. In recent years, more and more scholars have begun to pay attention to the special disease of sitosterolemia. Bibliometric analysis, as a method of quantitative analysis of scientific literature, can help us systematically understand the research status and development trends in this field. In this study, CiteSpace software was used to analyze the literature on sitosterolemia.</div></div><div><h3>SOURCES OF MATERIAL</h3><div>Publications on sitosterolemia were collected from the Web of Science Core Collection (WOSCC) and PubMed. The bibliometric tools CiteSpace software and Microsoft Excel were used to identify the historical features, the evolution of active topics, and emerging trends in the sitosterolemia field.</div></div><div><h3>ABSTRACT OF FINDINGS</h3><div>A total of 885 publications were retrieved and 416 publications were included in the analysis after the removal of duplicates. From 1974 to 2024, the number of publications and the related citations show an obvious fluctuating trend. The top 3 institutions with the most publications were the University of Bonn, the University of Texas System, and the University of Texas Southwestern Medical Center Dallas; the top 3 authors with the most publications were Patel SB, Tada H, and Salen G. The research hotspots on sitosterolemia mainly focus on phytosterols, whole exome sequencing, and lipid metabolism. The top 5 keywords by frequency of occurrence were “sitosterolemia,” “humans,” “dietary-cholesterol,” “cholesterol,” and “absorption.” There is extensive scientific research cooperation among the sitosterolemia research institutions. Genetic research remains an important and ongoing area of interest in the study of sitosterolemia, given the fundamental role of genetic mutations in the disease's pathogenesis.</div></div><div><h3>CONCLUSION</h3><div>The findings based on the bibliometric studies provide the current status and trends in sitosterolemia research and may help researchers identify hot topics and explore new research directions in this field.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 790-801"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248143","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":"Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis","authors":"Semra Tiryaki Demir MD, Assoc. Prof. ,&nbsp;Tuğçe Dursun Yılmazşamlı MD ,&nbsp;Kağan Çalışgan MD ,&nbsp;Fatih Kerem Dedeli MD ,&nbsp;Hanım Babazade MD ,&nbsp;Mehmet Dedeler MD ,&nbsp;Ertuğrul Kıykım MD, PhD ,&nbsp;Çiğdem Aktuğlu-Zeybek MD ,&nbsp;Tanyel Zubarıoglu MD, PhD","doi":"10.1016/j.jacl.2025.05.008","DOIUrl":"10.1016/j.jacl.2025.05.008","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder characterized by cholesterol and cholestanol accumulation, leading to neurological and ocular complications. While cataracts and optic neuropathy are common, retinal structural and vascular alterations remain poorly understood.</div></div><div><h3>OBJECTIVE</h3><div>To comprehensively evaluate ophthalmologic findings and retinal imaging characteristics in CTX patients.</div></div><div><h3>METHODS</h3><div>This prospective, cross-sectional study included detailed ophthalmologic examinations of CTX patients, including best corrected visual acuity (BCVA), intraocular pressure (IOP), biomicroscopy, and fundus examination. Retinal imaging was performed using optical coherence tomography (OCT) and OCT-angiography (OCTA). Central foveal thickness (CFT), parafoveal retinal thickness (RT), ganglion cell layer thickness (GCLT), and vessel densities (VDs) of the superficial (SCP) and deep capillary plexus (DCP) were analyzed and compared with age-matched healthy controls.</div></div><div><h3>RESULTS</h3><div>A total of 18 eyes from 9 CTX patients and 18 eyes from 9 controls were included. Five patients (55.5%) had prior cataract surgery. All eyes that underwent cataract surgery exhibited myopic/astigmatic refractive errors, and 3 (30%) had elevated IOP. Fundoscopy revealed optic disc hypoplasia, pallor, blurred disc margins, and increased vascular tortuosity in some cases (44.4%). BCVA, parafoveal RTs, and parafoveal SCP-VDs were significantly lower in CTX patients (<em>P</em> &lt; .05). CFT, foveal SCP-VD, and GCLT were lower but not statistically significant (<em>P</em> &gt; .05).</div></div><div><h3>CONCLUSION</h3><div>Cataracts and optic nerve abnormalities are the most common ocular findings in CTX. Eyes undergoing cataract surgery should be closely monitored for refractive errors and IOP. Retinal neurovascular pathologies can be detected noninvasively using OCT and OCTA imaging<strong>.</strong></div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 990-999"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608472","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}