Journal of clinical lipidology最新文献

{"title":"Comparison of product label vs real-world safety data from branded icosapent ethyl users: A select analysis utilizing MarketScan data.","authors":"John R Nelson, Richard A Hansen, Handrean Soran, Nilima Justice, Om P Ganda, David Abrahamson, Kaveh Hosseini, Hakima Hannachi, Sephy Philip","doi":"10.1016/j.jacl.2025.02.001","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.02.001","url":null,"abstract":"<p><strong>Background: </strong>The REDUCE-IT trial demonstrated significant reductions in cardiovascular events with icosapent ethyl (IPE) treatment among patients with elevated triglyceride levels; however, patients on IPE experienced slightly more atrial fibrillation/flutter, bleeding, constipation, and peripheral edema events compared with patients receiving placebo. The real-world frequency of these events outside of trials and spontaneous post-marketing reports is unknown.</p><p><strong>Sources of material: </strong>The frequency of the events of interest with IPE was compared across the REDUCE-IT trial, product labels, and real-world evidence (RWE) estimates derived using the MarketScan Commercial Claims database. New IPE users were followed up to 4 years; events were identified from ICD-10 codes. Cumulative incidence of each event was compared across data sources.</p><p><strong>Abstract of findings: </strong>RWE estimates exhibited similar trends to the trial-based estimates; however, the RWE estimates consistently were one-third to one-fifth of the cumulative incidences reported in the REDUCE-IT trial or product label.</p><p><strong>Conclusion: </strong>IPE may be well tolerated in real-world settings.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730074","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":"Atherogenic lipoproteins associate with loss of glycemic control in youth-onset type 2 diabetes: Results from the TODAY study.","authors":"Lorraine E Levitt Katz, Samuel S Gidding, James D Otvos, Kimberly L Drews, Fida Bacha, Steven Willi, Santica Marcovina, Siripoom McKay, Ruth S Weinstock","doi":"10.1016/j.jacl.2025.01.005","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.01.005","url":null,"abstract":"<p><strong>Background: </strong>Type 2 diabetes (T2D) in adolescents is associated with an unfavorable lipid profile, but lipoprotein particle subspecies and branched-chain amino acid (BCAA) data are scarce.</p><p><strong>Objective: </strong>To evaluate lipoprotein particle distributions, lipoprotein insulin resistance index (LP-IR), and BCAA levels longitudinally and their relationships with sex, race/ethnicity, treatment, and loss of glycemic control in adolescents with youth-onset T2D.</p><p><strong>Methods: </strong>Participants from the TODAY study (n = 348) had samples analyzed yearly for glycated hemoglobin and nuclear magnetic resonance lipoprotein and BCAA assessments.</p><p><strong>Results: </strong>At baseline, participants with were 13.7 years old with T2D, obesity, and from racial and ethnic minority groups (32.2% Non-Hispanic Black [NHB], 43.7% Hispanic). Smaller low-density lipoprotein (LDL) and larger very low-density lipoprotein (VLDL) sizes, higher high-density lipoprotein (HDL) particle number, and increased LP-IR score predicted worsening of glycemic control. LDL, HDL, and VLDL particle numbers increased over 3 years with weaker trends for decreasing LDL and HDL size. LP-IR and BCAA levels were higher longitudinally in those who lost glycemic control. Females had larger HDL size than males at baseline and throughout. NHBs had the largest LDL and HDL sizes, smaller VLDL size, and lower LP-IR and BCAA.</p><p><strong>Conclusion: </strong>These data in youth with T2D demonstrate a progressive atherogenic lipoprotein phenotype over 3 years. Increased LP-IR and BCAA are associated with worsening glycemic control and may be contributing to the premature development of atherosclerosis in youth with T2D.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605118","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":"Exploring the correlation between triglyceride levels and atherosclerotic cardiovascular disease prevalence in adults with familial hypercholesterolemia: Insights from a cross-sectional analysis in the HELLAS-FH registry.","authors":"Panagiotis Anagnostis, Christos V Rizos, George Liamis, Loukianos Rallidis, Ioannis Skoumas, Genovefa Kolovou, Konstantinos Tziomalos, Emmanouil Skalidis, Anastasia Garoufi, Vasileios Kotsis, Michalis Doumas, George Sfikas, Vaia Lambadiari, Georgia Anastasiou, Ermioni Petkou, Estela Kiouri, Κonstantinos A Papathanasiou, Ioanna Dima, Vana Kolovou, Evangelos Zacharis, Christina Antza, Chrysoula Boutari, Charalambos Koumaras, Amalia Boufidou, Haralampos Milionis, Evangelos Liberopoulos","doi":"10.1016/j.jacl.2024.12.017","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.12.017","url":null,"abstract":"<p><strong>Background: </strong>High triglyceride (TG) levels are associated with increased atherosclerotic cardiovascular disease (ASCVD) risk in the general population. Yet, the role of TG in familial hypercholesterolemia (FH) remains understudied. This research aims to evaluate the link between TG levels and ASCVD prevalence in adult patients with FH.</p><p><strong>Methods: </strong>This cross-sectional analysis, derived from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH), involves categorizing patients into tertiles based on their TG concentrations.</p><p><strong>Results: </strong>In our study of 1772 adults with heterozygous FH (HeFH), aged 51 ± 15 years at registration and diagnosed at 44 ± 16 years, TG concentrations in the 1st (80 mg/dL), 2nd (124 mg/dL), and 3rd (200 mg/dL) tertiles revealed varying ASCVD prevalence (18.0%, 28.5% and 28.5%, respectively). Adjusted for ASCVD risk factors, TGs ≥116 mg/dL were linked to higher ASCVD risk than levels <116 mg/dL (OR: 1.37, 95% CI 1.05-1.80, P = .02).</p><p><strong>Conclusions: </strong>A notable association with ASCVD is evident in FH patients, even at relatively low TG levels, starting from 116 mg/dL (1.31 mmol/L).</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074742","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":"Polygenic risk score for coronary artery disease predicts atherosclerotic cardiovascular disease in familial hypercholesterolemia.","authors":"Martine Paquette, Mark Trinder, Isabelle Ruel, Simon-Pierre Guay, Robert A Hegele, Jacques Genest, Liam R Brunham, Alexis Baass","doi":"10.1016/j.jacl.2025.01.004","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.01.004","url":null,"abstract":"<p><strong>Background: </strong>Patients with familial hypercholesterolemia (FH) are at increased risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is heterogeneous, and the contribution of several clinical risk factors has been well demonstrated in this population. The proportion of the risk conferred by the accumulation of common small effect variants in coronary artery disease (CAD) susceptibility genes remains to be determined.</p><p><strong>Objective: </strong>The objective was to determine if a weighted polygenic risk score (PRS) for CAD (PRS_CAD) is associated with ASCVD risk in patients with heterozygous FH (HeFH).</p><p><strong>Methods: </strong>This study included 1886 participants with HeFH from 3 independent cohorts: the FH Canada national registry, the UK Biobank, and the Montreal Clinical Research Institute FH cohort. The lifelong ASCVD risk was compared between groups using Kaplan-Meier estimates and Cox proportional hazards regression models.</p><p><strong>Results: </strong>The group with a high PRS_CAD (>75th percentile) had a ∼2-fold increased risk of ASCVD compared to those with a lower PRS_CAD (≤75th percentile) (HR 1.92 (1.55-2.37), P < .0001). The effect of the PRS_CAD on ASCVD risk remained significant after correction for clinical risk factors (P = .0002). This association was similar between women and men (P interaction = .68), between genetic and clinical FH (P interaction = .48), between cohorts (P interaction = .39), and between the type of PRS (P interaction = .81).</p><p><strong>Conclusion: </strong>We demonstrated in the largest study to date that the use of a PRS_CAD allowed us to further refine risk stratification in HeFH. Further studies are needed to evaluate the clinical value of adding the PRS_CAD to current risk prediction tools.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143501538","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":"The causal association between lipid-lowering strategies and risk of intracranial aneurysms: A drug-target Mendelian randomization study.","authors":"Da Zhou, Jiahao Song, Guangyu Han, Xiaoming Zhang, Xunming Ji, Ran Meng","doi":"10.1016/j.jacl.2025.01.003","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.01.003","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have suggested potential correlations between unfavorable lipid profiles and the occurrence of intracranial aneurysms (IAs), proposing that lipid-lowering therapies might curb IA progression and prevent rupture. This study aimed to explore the causal impacts of lipid-reducing strategies on the risk of IAs.</p><p><strong>Methods: </strong>We employed 3 genetic tools as proxies for our exposures and assessed causal effects using outcome genome-wide association study data from the FinnGen Biobank. Single nucleotide polymorphisms strongly associated with low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol, and triglycerides, located within ±100 kb of the region of target genes, were selected as instrumental variables for drug-target Mendelian randomization (MR). Additionally, gene expression and protein MR analyses were conducted to elucidate the causal effects of lipid levels from transcriptional and translational perspectives, using two-sample MR (TSMR) and summary-data-based MR (SMR).</p><p><strong>Results: </strong>Drug-target MR analysis revealed that proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition-mediated LDL-C reduction was associated with an increased risk of IA development (OR = 1.406, P = 3.28E-09). In contrast, protein MR demonstrated that higher PCSK9 expression had protective effects against IA incidence (OR_TSMR = 0.896, P = 1.79E-03; OR_SMR = 0.881, P = 1.78E-02). Subgroup analyses further suggested that PCSK9 might reduce the risk of IA rupture (OR_TSMR = 0.893, P = 1.08E-02; OR_SMR = 0.866, P = 3.39E-02).</p><p><strong>Conclusion: </strong>Our MR analyses indicated a potential causal relationship between higher PCSK9 expression and a reduced risk of both IA formation and rupture, highlighting the dual role of PCSK9 inhibitors in cerebrovascular disease. Hence, careful consideration is warranted when prescribing PCSK9 inhibitors, particularly in patients at risk for developing IAs.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468133","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":"Non-high-density lipoprotein cholesterol outperforms low-density lipoprotein cholesterol in predicting cardiovascular events among high-risk Asians.","authors":"Worapaka Manosroi, Phichayut Phinyo, Mattabhorn Phimphilai, Pisit Hutayanon, Siriluck Gunaparn, Arintaya Phrommintikul, Wanwarang Wongcharoen","doi":"10.1016/j.jacl.2025.01.002","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.01.002","url":null,"abstract":"<p><strong>Background: </strong>Non-high-density lipoprotein cholesterol (non-HDL-C) has been reported to exhibit stronger associations with cardiovascular outcomes compared to low-density lipoprotein cholesterol (LDL-C). However, data on this association, particularly among Asians using statins, are limited. This study aimed to compare the predictability of non-HDL-C and LDL-C on long-term 3-point major adverse cardiac events (3P-MACE) in statin-treated patients.</p><p><strong>Methods: </strong>Data from patients with atherosclerotic cardiovascular disease (ASCVD) or at high risk were obtained from the multicenter national registry, \"CORE-Thailand study.\" The primary outcome was 3P-MACE, including all-cause mortality, non-fatal myocardial infarction, and non-fatal stroke. Patients were stratified into quartiles based on non-HDL-C and LDL-C levels, and Cox proportional hazards regression models were used to analyze their association with 3P-MACE.</p><p><strong>Results: </strong>A total of 6978 with non-HDL-C data and 7365 with LDL-C data were included. In the fully adjusted model, overall non-HDL-C data and data from the highest quartile showed a significant association with 3P-MACE (HR: 1.008, 95% CI, 1.003-1.012, P < .001 and HR: 1.676, 95% CI, 1.218-2.307, P = .002, respectively). LDL-C did not exhibit a significant association with 3P-MACE. Interestingly, there was a trend suggesting that higher LDL-C levels were associated with a reduced risk of long-term MACEs when adjusted for non-HDL-C. These findings were consistent across all population subgroups.</p><p><strong>Conclusions: </strong>In patients with high-risk or established ASCVD receiving statin therapy, elevated non-HDL-C, rather than LDL-C, was associated with 3P-MACE. Non-HDL-C may therefore be considered a primary target for addressing residual cardiovascular risk in these individuals.</p><p><strong>Trial registration: </strong>TCTR20130520001 registered in Thai Clinical Trials Registry (TCTR) https://www.thaiclinicaltrials.org/, date of registration 20 May 2013.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573222","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":"Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy.","authors":"Nao Konagai, Naoko Iwanaga, Manabu Minami, Jun Yoshimatsu","doi":"10.1016/j.jacl.2025.01.001","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.01.001","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-08","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}

{"title":"Familial chylomicronemia syndrome caused by two genetic variants in the APOA5 gene: Severe hypertriglyceridemia that complicates pregnancy.","authors":"Johnayro Gutiérrez, Pablo Castaño, Gregorio Fariña, Gabriela Berg, Jubby Marcela Gálvez, Juan Patricio Nogueira","doi":"10.1016/j.jacl.2024.12.020","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.12.020","url":null,"abstract":"<p><p>A case of a 29-year-old female patient with a history of a single episode of hypertriglyceridemia-induced pancreatitis 4 years prior is reported. She had been treated with fibrates until 2 months before conception and required hospitalization at 33 weeks of gestation due to severe hypertriglyceridemia (6690 mg/dL) and gestational diabetes. Upon hospital admission, there was no evidence of pancreatitis. A comprehensive treatment approach was initiated, combining a low-fat diet, fibrates, omega-3 fatty acids (2 g/d), and continuous insulin infusion. This regimen resulted in a significant reduction of triglyceride levels to 960 mg/dL. The pregnancy progressed to full term without any maternal-fetal complications. Genetic analysis revealed 2 compound heterozygous mutations in the APOA5 gene, which encodes apolipoprotein AV. Notably, these specific mutations have not been previously reported as causative factors for familial chylomicronemia syndrome (FCS). The diagnosis of FCS was confirmed by the patient's markedly reduced lipoprotein lipase activity of 3.2%.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537256","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 lipidic plaque features in association with LDL-C<70 mg/dL and lipoprotein(a) <50 mg/dL.","authors":"Daisuke Shishikura, Yu Kataoka, Stephen J Nicholls, Kausik K Ray, Rishi Puri, Hirofumi Kusumoto, Yohei Yamauchi, Kazushi Sakane, Tomohiro Fujisaka, Hideaki Morita, Kota Murai, Takamasa Iwai, Kenichiro Sawada, Hideo Matama, Satoshi Honda, Masashi Fujino, Shuichi Yoneda, Kensuke Takagi, Kazuhiro Nakao, Fumiyuki Otsuka, Kensaku Nishihira, Itaru Takamisawa, Yasuhide Asaumi, Teruo Noguchi, Mariko Harada-Shiba, Masaaki Hoshiga","doi":"10.1016/j.jacl.2024.12.019","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.12.019","url":null,"abstract":"<p><strong>Background: </strong>The ongoing residual cardiovascular risks despite lowering low-density lipoprotein cholesterol (LDL-C) levels suggest the need to identify additional drivers associated with atherosclerosis. Circulating lipoprotein(a) [Lp(a)]promotes formation of foam cells via its proatherogenic properties. However, whether a lower Lp(a) level in combination with favorable LDL-C control could induce a more stable form of disease remains unknown. Near-infrared spectroscopy (NIRS) generates maximum lipid-core burden index in 4 mm (MaxLCBI_4 mm) which is a histologically validated measure of lipidic plaque material in vivo. Therefore, the current study employed NIRS imaging to characterize lipidic plaque in association with LDL-C < 70 mg/dL and Lp(a) <50 mg/dL.</p><p><strong>Methods: </strong>We analyzed 439 patients with coronary artery disease (CAD) (554 de-novo target lesions receiving percutaneous coronary intervention) in the REASSURE-NIRS registry (NCT04864171). Clinical characteristics and NIRS-derived MaxLCBI₄_mm were compared among 4 groups according to LDL-C of 70 mg/dL and Lp(a) of 50 mg/dL.</p><p><strong>Results: </strong>Almost one-third of study subjects (33.4%) exhibited both LDL-C < 70 mg/dL and Lp(a) <50 mg/dL. They were more likely male with a lower frequency of acute coronary syndrome and lipid lowering therapies were more frequently used in those with LDL-C < 70 mg/dL and Lp(a) <50 mg/dL. On NIRS imaging analysis, a smaller MaxLCBI₄_mm (P < .001) and a lower frequency of MaxLCBI₄_mm ≥400 (P = .001) were observed in those with both LDL-C < 70 mg/dL and Lp(a) <50 mg/dL. On multivariable logistic regression analysis, the coexistence of these 2 lipid controls showed an approximately 70% lower risk (adjusted odds ratio: 0.30; 95% confidence interval: 0.13-0.68) of MaxLCBI₄_mm ≥400 compared with the reference group (LDL-C ≥ 70 mg/dL and Lp(a) ≥50 mg/dL).</p><p><strong>Conclusion: </strong>Our findings suggest circulating Lp(a) as a potential therapeutic target to stabilize coronary atherosclerosis in CAD patients who achieved LDL-C < 70 mg/dL.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425594","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":"Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America","authors":"Robert A. Hegele MD ,&nbsp;Zahid Ahmad MD ,&nbsp;Ambika Ashraf MD ,&nbsp;Andrew Baldassarra BA ,&nbsp;Alan S. Brown MD ,&nbsp;Alan Chait MD ,&nbsp;Steven D. Freedman MD, PhD ,&nbsp;Brenda Kohn MD ,&nbsp;Michael Miller MD ,&nbsp;Nivedita Patni MD ,&nbsp;Daniel E. Soffer MD ,&nbsp;Jian Wang MD ,&nbsp;Michael S. Broder MD, MSHS ,&nbsp;Eunice Chang PhD ,&nbsp;Irina Yermilov MD, MPH, MS ,&nbsp;Cynthia Campos MPH ,&nbsp;Sarah N Gibbs MPH","doi":"10.1016/j.jacl.2024.09.008","DOIUrl":"10.1016/j.jacl.2024.09.008","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Familial chylomicronemia syndrome (FCS) is an ultrarare inherited disorder. Genetic testing is not always feasible or conclusive. European clinicians developed a “FCS score” to differentiate between FCS and multifactorial chylomicronemia syndrome (MCS), a more common condition with overlapping features. A diagnostic score has not been developed for use in the North American (NA) context.</div></div><div><h3>OBJECTIVE</h3><div>To develop and validate a diagnostic score for NA patients based on signs, symptoms and biochemical traits of FCS.</div></div><div><h3>METHODS</h3><div>Using the RAND/UCLA modified Delphi process, we convened 10 US/Canadian physicians with experience recognizing and treating FCS and 1 adult patient with FCS. The panel developed and rated 296 scenarios describing patients with FCS. Linear regression analyses used median post-meeting ratings to develop score parameters. We tested the score's sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) in patients with classical FCS, functional FCS, and MCS from Western University's Lipid Genetics Clinic's registry.</div></div><div><h3>RESULTS</h3><div>Numerical scores were attributed based upon the following: age, hypertriglyceridemia onset, body mass index, history of abdominal pain/pancreatitis, presence of secondary factors, triglyceride (TG) levels, ratio of TG/total cholesterol, and apolipoprotein B level. Scores ≥ 60 indicate definite classical FCS; the score distinguished patients with FCS from MCS in a real-world registry (100.0% specificity, 66.7% sensitivity, 100.0% PPV, 95.5% NPV). Scores ≥ 45 were “very likely” to have classical FCS (96.9% specificity, 88.9% sensitivity).</div></div><div><h3>CONCLUSION</h3><div>Given its simplicity and high specificity for distinguishing patients with FCS from MCS, the NAFCS Score could be used in lieu of - or while awaiting - genetic testing to optimize treatment.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 1","pages":"Pages 83-94"},"PeriodicalIF":3.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}