Journal of clinical lipidology最新文献

{"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, María Del Pilar Coronado-Carvajal, Oriol Alberto Rangel-Zúñiga, José David Torres-Peña, Antonio Pablo Arenas-de Larriva, Alejandro López-Moreno, Niki Katsiki, José María Ordovás, Javier Delgado-Lista, Pablo Pérez-Martínez, Francisco Miguel Gutiérrez-Mariscal, José López-Miranda","doi":"10.1016/j.jacl.2025.05.001","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.001","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-05-24","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":"Cardiovascular risk and lipid control in older adults: Compliance with LDL, non-HDL cholesterol, and triglyceride goals in a national cross-sectional study.","authors":"Cristian Orlando Porras Bueno, Jesús Andres Beltrán España, Carolina Murgueitio Guzmán, Cándida Diaz-Brochero, Ángel Alberto García Peña","doi":"10.1016/j.jacl.2025.04.197","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.04.197","url":null,"abstract":"<p><strong>Background: </strong>Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. Low-density lipoprotein cholesterol (LDL-C) is a key therapeutic target, yet data on compliance with lipid goals in older adults from low- and middle-income countries are limited.</p><p><strong>Objective: </strong>To evaluate the compliance with lipid profile goals in older adults.</p><p><strong>Methods: </strong>This cross-sectional study analyzed 1270 adults aged ≥60 years from the Survey on Health, Well-being, and Ageing in Latin America and the Caribbean (SABE) Colombia 2015 survey. Cardiovascular risk was assessed via Framingham, ASCVD 2013, and SCORE2 models calibrated for Colombia, and lipid profile compliance was evaluated.</p><p><strong>Results: </strong>Most participants were at high or very high risk according to the SCORE2 (54.10%), ASCVD (10%), and Framingham (10.87%) criteria. LDL-C target compliance was low, ranging from 0.72% (Framingham) to 3.93% (ASCVD). Triglyceride targets were better achieved, with 54.88% meeting goals in the highest SCORE2 category.</p><p><strong>Conclusions: </strong>Older Colombian adults have poor compliance with lipid goals, underscoring the urgent need for enhanced preventive strategies in this population.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142569","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":"Evaluating the underutilization of lipid-lowering therapy in Asian patients – A high-risk population","authors":"Christian Leung MD,&nbsp;Rahul Rege MD,&nbsp;Vidhi Patel PhD,&nbsp;Manila Jindal MD,&nbsp;Sri Nuvvula MD","doi":"10.1016/j.jacl.2025.04.003","DOIUrl":"10.1016/j.jacl.2025.04.003","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>In 2019, cardiovascular disease caused 10.8 million deaths in Asia (35% of all deaths), 39% of which were premature. Lipid-lowering therapy (LLT) is a key strategy for reducing the risk of atherosclerotic cardiovascular disease (ASCVD). South Asians have a significantly higher risk of heart disease and should have a goal LDL of less than 100 mg/dL. ACC/AHA guidelines note South Asian ancestry to be a risk enhancing factor and suggest LDL goal of 70 mg/dL.</div></div><div><h3>Objective/Purpose</h3><div>We reviewed hospital visits by Asian patients in the largest medical system in New York State to identify if we utilized the opportunity to initiate LLT on discharge when appropriate.</div></div><div><h3>Methods</h3><div>A retrospective electronic medical record review of all patients aged 18 or above who self-identified as Asians during registration and seen either in the emergency department or admitted to one of the 14 locations of our medical health system between 09/01/2018 to 09/01/2023. All patients included had LDL levels 70 mg/dL or above. Lipid lowering medications reviewed included rosuvastatin, atorvastatin, lovastatin, pravastatin, ezetimibe, and evolocumab.</div></div><div><h3>Results</h3><div>We found a total of 12,338 visits by Asian patients. LDL levels were stratified in three categories: 70-99 mg/dL, 100-189 mg/dL, and 190 mg/dL or above and were found to be in 48% (n = 5,961), 49% (n = 6,090), and 2.3% (n = 287) of the patients respectively. More specifically, as patients with LDL &gt; 189 mg/dL are at the highest risk of cardiovascular events, we found that only 34.1% (n = 98/287) of these patients were on LLT on admission, and surprisingly, 11% (n = 11) of the patients already on LLT on admission were discharged without LLT. Overall, 33.3% (n = 96) of the patients were not discharged on LLT and 18% (n = 52) of patients had LDL levels greater than 250 mg/dL (Figure II). Our results show that 4.5% (n =13) died, 14.2% (n = 41) had a myocardial infarction, and 12.2% (n = 35) had a stroke with one year (Figure 1).</div></div><div><h3>Conclusions</h3><div>Although the guidelines are clear regarding the initiation of LLT in any patient with LDL 190 mg/dL or greater, our study shows that a large percentage of patients were not discharged with LLT after a high-value encounter at hospitals. This is especially notable given the higher risk of ASCVD and its clinical impact in Asian population. We aim to further research into determining the cause of this discrepancy and addressing the gap to improve patient outcomes in this community.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e1-e2"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168565","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 atherogenic index of plasma (AIP) and remnant-like particle cholesterol (RLP-C) as prognostic biomarkers of post-PCI adverse cardiovascular events","authors":"John Nelson MD,&nbsp;Hamed Rafiee MD,&nbsp;Pegah Bahrami MD,&nbsp;Mohammad Mehdi Zare MD,&nbsp;Davood Semirani-Nezhad MD,&nbsp;Amir Parsa Abhari MD,&nbsp;Sima Shamshiri Khamene MD,&nbsp;Parham Dastjerdi MD,&nbsp;Fatemeh Fathabadi MD,&nbsp;Hamidreza Soleimani MD,&nbsp;Kaveh Hosseini MD","doi":"10.1016/j.jacl.2025.04.031","DOIUrl":"10.1016/j.jacl.2025.04.031","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>AIP is a lipid index correlating with lipoprotein particle size and atherogenicity. RLP-C is a subset of triglyceride-rich lipoproteins, associated with residual atherogenic risk observed despite taking lipid-lowering medications. Several studies have identified AIP and RLP-C as potential predictors of post-percutaneous coronary intervention (PCI) prognosis; however, contradicting results exist.</div></div><div><h3>Objective/Purpose</h3><div>To investigate and compare the predictive capacities of AIP and RLP-C for post-PCI adverse cardiovascular (CV) events.</div></div><div><h3>Methods</h3><div>This was a secondary data analysis on patients undergoing PCI from 2015 to 2021. AIP was calculated as log [TG / HDL-C] and RLP-C as [TC – HDL-C – LDL-C]. The primary outcome was the first episode of MACCE (defined as all-cause mortality, myocardial infarction (MI), stroke, target vessel revascularization, target lesion revascularization, and coronary artery bypass graft). Secondary outcomes were the first incidence of MI, all-cause mortality, and stroke. Parametric survival models with Gompertz and Weibull distributions were used. Model 1 was crude. Model 2 was adjusted for age, gender, smoking, and BMI. Model 3 was additionally adjusted for hypertension, diabetes, dyslipidemia, previous ACS, previous PCI, and creatinine levels. Time-dependent receiver operating characteristic (ROC) curve analysis was performed.</div></div><div><h3>Results</h3><div>A total of 13,392 patients were included and followed for a median time of 376 days. In model 3, no significant associations were observed between the indices and MACCE or stroke. While RLP-C showed significant association with MI in model 3 (HR = 1.36, 95% CI: 1.03 to 1.80, P = 0.029) the same association for AIP was insignificant by a small margin (HR = 1.32, 95% CI: 0.99 to 1.75, p-value = 0.058). However, MI was best predicted by AIP (AUC: 0.659 vs 0.650) in ROC curve analysis. Both AIP and RLP-C were significantly associated with all-cause mortality as continuous variables (AIP: HR = 1.83, 95% CI: 1.02 to 3.28, P = 0.043; RLP-C: HR = 1.38, 95% CI: 1.11 to 1.72, P = 0.003) as opposed to categorical. RLP-C exhibited higher prediction ability for mortality in ROC curve analysis (AUC: 0.650 vs 0.641).</div></div><div><h3>Conclusions</h3><div>To the best of our knowledge this is the first study to compare the predictive utility of both AIP and RLP-C for post-PCI adverse CV events. Both AIP and RLP-C had significant associations with post-PCI mortality, and RLP-C showed better predictive ability. RLP-C was also significantly associated with post-PCI MI, however, AIP had superior predictive ability.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e23-e24"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168571","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":"Comparison of the performance of three diagnosis scoring systems in patients with persistent chylomicronemia of different causes","authors":"Miriam Larouche MSc,&nbsp;Christie Ballantyne MD,&nbsp;Daniel Gaudet MD,&nbsp;Diane Brisson PhD","doi":"10.1016/j.jacl.2025.04.034","DOIUrl":"10.1016/j.jacl.2025.04.034","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Familial chylomicronemia syndrome (FCS) is a rare syndromic cause of chylomicronemia (TG&gt;1000 mg/dL) that persists despite treatment of secondary causes and the use of conventional lipid lowering treatment. FCS affects carriers of bi-allelic combinations of pathogenic variants in the LPL gene machinery. A significant number of individuals with persistent chylomicronemia do not meet this genetic criterion although presenting all FCS characteristics (clinical FCS) while other chylomicronemic patients (persistent or episodic) present different characteristics (MCS). Emerging treatments targeting persistent chylomicronemia are developed. Clinical diagnosis scoring systems have been proposed to help clinicians to accurately differentiate FCS from MCS patients.</div></div><div><h3>Objective/Purpose</h3><div>The objective of this study was to assess the ability of 3 published FCS diagnosis scoring systems to discriminate biallelic FCS from other forms of persistent chylomicronemia.</div></div><div><h3>Methods</h3><div>Sensitivity and specificity of 3 published FCS diagnosis scoring systems were evaluated in 52 patients with persistent chylomicronemia. FCS-causing genes were sequenced in all patients. FCS diagnosis score cut-off values were ≥ 9 in the French-Canadian (model A), ≥ 10 in the European (model B) and ≥ 60 in the North American (model C) FCS scoring systems.</div></div><div><h3>Results</h3><div>None of the scoring systems perfectly discriminated genetically proven FCS from other forms of persistent chylomicronemia. Models A and B presented similar performance (specificity [95%CI]: 0 [0 – 23.2] and 21.4 [4.7 – 50.8]; sensitivity: 92.1 [78.6-98.3] and 86.8 [71.9-95.6], respectively). Model C showed very high specificity (100 [76.8-100]) but relatively low sensitivity (63.2 [46.0-78.2]).</div></div><div><h3>Conclusions</h3><div>FCS clinical diagnosis scoring systems fairly identifiy patients presenting features of FCS without having the ability to easily distinguish beween genetically proven FCS and clinical FCS. Patients with persistent MCS present low scores but also represent an unmet medical need that should be treated similarly with respect to access to innovative precision therapies.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Pages e25-e26"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167929","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":"Integrating lipoprotein(a) into a cardiometabolic health curriculum for internal medicine residents: Gamified vs. traditional lecture for knowledge retention","authors":"Christian Leung MD,&nbsp;Ji-Cheng Hsieh MD,&nbsp;Rahul Rege MD,&nbsp;Spencer Weintraub MD,&nbsp;Lauren Block MD,&nbsp;Cassie Wang MD,&nbsp;Shafkat Salam MD,&nbsp;Andrew Cyr MD","doi":"10.1016/j.jacl.2025.04.035","DOIUrl":"10.1016/j.jacl.2025.04.035","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Lipoprotein(a) (Lp(a)) is an important biomarker to help identify patients at high risk of atherosclerosis and aortic stenosis. Despite the evolving literature on Lp(a) and recommendations from the National Lipid Association for a single lifetime test for all adult patients, screening rates remain low. Gamification in medical education promotes active learning that increases engagement, but its impact on educating providers on Lp(a) remains unclear.</div></div><div><h3>Objective/Purpose</h3><div>We aimed to assess whether internal medicine residents could benefit from content on Lp(a) and whether delivery via traditional lecture or a gamified format improved learning outcomes.</div></div><div><h3>Methods</h3><div>We integrated Lp(a) content into our cardiometabolic health curriculum for internal medicine residents at a large academic residency program. Content was drawn from the National Lipid Association and American College of Cardiology guidelines. Residents received a 50-minute online case-review style lecture in a traditional, slide-based format or a gamified format utilizing KAHOOT!®. Pre-post surveys included 5-point Likert scales to assess self-reported knowledge of professional guidelines, knowledge-based questions, and format preference. Data were analyzed using paired Student's t-tests with unequal variance to compare matched pre-post Likert scale ratings and knowledge test scores.</div></div><div><h3>Results</h3><div>Of 108 participating residents, 19 (17.6%) completed pre-post surveys, with 12/65 (18.4%) in the gamified group and 7/43 (16.2%) in the traditional group. Before the session, 47% of residents reported having no confidence in performing Lp(a) screening. There were significant pre-post increases in test scores in the gamified (mean 45% to 87%, p &lt; 0.01) and traditional (mean 42% to 85%, p &lt;0.01) groups. Between groups, there was no difference in the increase of Likert scale ratings or test scores. 91% of residents found the lecture engaging and relevant to future practice. 71% of residents in the traditional group and 91% in the gamified group preferred a gamified format.</div></div><div><h3>Conclusions</h3><div>Gamified and traditional lecture formats were effective in educating residents on Lp(a). Residents found Lp(a) material relevant to clinical practice and preferred the gamified format. Further studies will assess whether integration of gamified Lp(a) content increases guideline-based screening of Lp(a) in our resident clinics.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e26"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167930","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 burdens and barriers of optimizing LDL-C management: A survey of physicians in the United States","authors":"Taruja Karmarkar PhD,&nbsp;Jordan Schmier MA,&nbsp;Sayeli Jayade MPH,&nbsp;Kyle Roney MPH,&nbsp;Ross Simpson Jr. MD,&nbsp;Jason Exter PharmD,&nbsp;Seth Baum MD,&nbsp;Lawrence Leiter MD,&nbsp;Lori Bash PhD","doi":"10.1016/j.jacl.2025.04.011","DOIUrl":"10.1016/j.jacl.2025.04.011","url":null,"abstract":"<div><h3>Funding</h3><div>This research was supported by Merck &amp; Co., Inc.</div></div><div><h3>Background/Synopsis</h3><div>Despite evidence of the benefits of lowering low-density lipoprotein cholesterol (LDL-C) in reducing the risk of atherosclerotic cardiovascular disease (ASCVD) and the availability of safe and effective lipid lowering therapies (LLT) to do so, the burden of elevated LDL-C and underuse of LLT remain high.</div></div><div><h3>Objective/Purpose</h3><div>We describe barriers related to optimizing LDL-C management, which are not yet well understood.</div></div><div><h3>Methods</h3><div>From April 2024 through June 2024, US cardiologists and primary care providers (PCPs) (practicing for &gt; 2 years, prescribing LLT to &gt; 50 patients monthly), were invited to participate in a 30-minute online survey on the barriers of managing LDL-C and optimizing LLT. The survey was informed by literature and expert opinion and analyzed descriptively.</div></div><div><h3>Results</h3><div>We report on 200 cardiologists and 200 PCPs (mean age 49 years, mostly male [76.5%] and white [53%]) who treat an average of 299 patients/month, of whom 55% manage at least 100 patients with LLT monthly. Overall, ∼8% of physicians reported their patients refuse any LLT more than half of the time; in contrast, more than twice as many (∼23%) physicians reported patient refusal of injectable LLT more than half of the time. The most often reported reasons for patients declining LLT were preferences for lifestyle changes (82%), concern about potential side effects (83%), and not wanting medication in general (75%). The most frequently reported reasons for declining injectables were cost/insurance reasons (73%) and fear/discomfort of injections (73%). Most cardiologists (55%) and PCPs (57%) reported counseling of patients takes longer when prescribing PCSK9is than for oral LLTs due to time spent educating on administration. Of those surveyed, physicians perceived secondary prevention patients, those with LLT experience, and those with greater understanding of ASCVD risk (compared to primary prevention, LLT-naïve and those with less understanding of their risk) to have higher LLT adherence.</div></div><div><h3>Conclusions</h3><div>Among 400 US physicians surveyed, a number of barriers to optimal lipid management were reported. These included more patient refusals specific to LLT injectables than LLT in general, with different reasons for refusal, as well as physician concerns related to time and resource constraints when initiating treatment. Responses suggest patient, clinician, and system barriers may all hinder LDL-C management and adherence. Further research is required to understand the association between perceived barriers and real-world behaviors to better inform optimization of lipid management.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e7"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167938","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":"Long-term monitoring of LPL gene replacement therapy: A lexicon of lessons for gene editing or oligonucleotide-based lipid lowering treatments","authors":"Miriam Larouche MSc,&nbsp;Isabelle Gaudet PsyD,&nbsp;François Forest PharmD,&nbsp;Diane Brisson PhD,&nbsp;Daniel Gaudet MD,&nbsp;Jasmine Chebli PhD","doi":"10.1016/j.jacl.2025.04.096","DOIUrl":"10.1016/j.jacl.2025.04.096","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Glybera® (alipogene tiparvovec) was the first gene replacement therapy to be approved in the occidental world. Glybera targeted lipoprotein lipase deficiency (LPLD) which causes persistent chylomicronemia. A 15-year safety follow-up was a requirement of the European Medicines Agency (EMA). The long-term trajectory of treated patients has not been reported and might provide useful data for the follow-up of dyslipidemic patients treated with emerging oligonucleotide or gene-based treatments.</div></div><div><h3>Objective/Purpose</h3><div>To review the long-term trajectory of patients treated with Glybera in light of the emergence of ASO, siRNA, gene replacement or gene editing treatments for lipid disorders.</div></div><div><h3>Methods</h3><div>A total of 19 patients were treated with Glybera and followed for 15 years. Markers of efficacy, safety, and response to emerging therapies introduced over the years were monitored.</div></div><div><h3>Results</h3><div>After 3 months of Glybera administration, TG levels returned to baseline suggesting limited efficacy, while patients reported improved alertness and quality of life. One year after treatment, the analysis of injected muscle biopsies demonstrated the presence and lipolytic effectiveness of LPL, whereas chylomicron kinetic analyses using stable isotopes showed normalization. After 5 years, 44.4% of the participants still showed signs of improvement in chylomicron kinetics. The slight decrease in the incidence of pancreatitis observed after 5 years was difficult to relate to Glybera. A mitochondrial integration of the LPL transgene was noted in 2 subjects without further off-target signals. Four treated subjects died from consequences of LPLD, not of Glybera administration. Pregnancies occurred during the follow-up period and went well. Over time, most patients participated in trials using oligonucleotide-based treatments. No difference in response to these treatments was noted between subjects who received Glybera compared the others.</div></div><div><h3>Conclusions</h3><div>Lessons learned from the long-term follow-up of Glybera treated patients are of interest for next generation of oligonucleotide-based or gene editing therapies for lipid disorders.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e69"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167952","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":"Double heterozygosity for variants in ABCG8 and ABCG5 and potential association with sitosterolemia","authors":"Mauricio De Castro MD,&nbsp;Sidney Brown BS","doi":"10.1016/j.jacl.2025.04.097","DOIUrl":"10.1016/j.jacl.2025.04.097","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Sitosterolemia is a rare autosomal recessive lipid disorder caused by pathogenic variants in the ABCG5 and/or ABCG8 genes. These genes encode ATP-binding cassette transporters responsible for the regulation of sterol absorption and excretion. Sitosterolemia leads to the accumulation of plant sterols in the blood, resulting in hypercholesterolemia, xanthomas, premature atherosclerosis, and other complications. We present the case of an individual with abnormal plant sterol levels and heterozygous variants in both genes. This case supports nascent evidence that double heterozygosity in ABCG5 and ABCG8 could lead to sitosterolemia.</div></div><div><h3>Objective/Purpose</h3><div>Very few cases of double heterozygosity in ABCG5 and ABCG8 leading to sitosterolemia have been reported in the literature. This case adds to the growing body of evidence supporting this association.</div></div><div><h3>Methods</h3><div>Comprehensive cholesterol balance panel including plant sterols was performed through a commercial laboratory (Boston Heart Diagnostics). Genetic testing was performed through a direct-to-consumer (DTC) testing platform and results validated through a CLIA-approved laboratory. The effectiveness of interventions was assessed through biochemical markers and clinical assessment.</div></div><div><h3>Results</h3><div>A 24-year-old female with syncope episodes and gastrointestinal symptoms underwent comprehensive testing including a cholesterol panel that showed elevated low-density lipoprotein (125 mg/dL) and considerably elevated plant sterol levels (Beta-sitosterol 244 µmol x 100/mmol and Campesterol 345 µmol x 100/mmol) suggestive of sitosterolemia. Genetic testing identified a pathogenic heterozygous variant in the ABCG8 gene (rs137852987 G&gt;A), as well as a heterozygous variant of uncertain significance in the ABCG5 gene (rs778605187 G&gt;C). Based on laboratory results and clinical findings, the patient received a presumptive diagnosis of sitosterolemia. Dietary changes and ezetimibe therapy resulted in significant symptom improvement, reduction in LDL levels, and normalization of plant sterol levels.</div></div><div><h3>Conclusions</h3><div>This case underscores the need for further research into the clinical impact of heterozygous and VUS mutations in ABCG5/ABCG8. It highlights the importance of personalized dietary and pharmacologic interventions in managing sitosterolemia-like presentations. The findings have implications for the evaluation and management of patients with rare genetic disorders, particularly those involving sterol metabolism.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e69"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167953","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":"Coronary artery disease in a zero calcium score patient: questioning the reliability of CAC in high-risk individuals","authors":"Nosagie Ohonba MBBS,&nbsp;Tanay Modi MBBS,&nbsp;Paige Seepaulsingh MBBS,&nbsp;Tiffany Haynes MD,&nbsp;Robert Fishberg MD,&nbsp;Marlin Mousa MB ChB","doi":"10.1016/j.jacl.2025.04.048","DOIUrl":"10.1016/j.jacl.2025.04.048","url":null,"abstract":"<div><h3>Background/Synopsis</h3><div>Coronary calcium score (CAC) is a non-invasive test that measures calcified plaque in the coronary arteries. It is often used to improve risk assessment in patients with a borderline 10-year ASCVD risk (5-7.5%) or with a strong family history of ASCVD. A CAC score of 0 has a high negative predictive value (95%-99%) and is reassuring. While CAC detects calcified plaques, it cannot identify non-calcified, potentially unstable plaques, which could contribute to acute coronary syndromes. This limitation is important in patients who are symptomatic despite a zero score.</div></div><div><h3>Objective/Purpose</h3><div>To evaluate the predictability of CAC in risk assessment of CAD in patients with high clinical risk.</div></div><div><h3>Methods</h3><div>A 47-year-old female with a history of hypertension, preeclampsia, and antiphospholipid syndrome presented with intermittent chest pain for weeks. Her echocardiogram and Holter monitoring were negative for CAD. She had no history of venous thromboembolism or smoking, but has a family history of SCAD, CABG, MI, and CVA. Initial ECG, troponin, and CAC score (0) were normal. LDL was 81, triglycerides 160, and ASCVD risk 0.8%. No further diagnostic test was pursued. However, she subsequently developed typical chest pain. ECG showed anterolateral STEMI, though troponins remained negative.</div></div><div><h3>Results</h3><div>PCI with left heart catheterization was done and showed non calcified plaque in proximal LAD with an 80% stenosis. A drug eluting stent was inserted, and she was treated with dual antiplatelet therapy and high intensity statins.</div></div><div><h3>Conclusions</h3><div>This case highlights the limitations of over-relying on CAC for risk assessment. While a CAC=0 has a high predictive value (95-99%) for obstructive CAD, the “power of zero” applies to asymptomatic patients and does not reliably exclude CAD risk in symptomatic younger patients.</div><div>Complementary functional tests could have helped make the correct diagnosis such as cardiac stress test, with sensitivity and specificity of 68% and 77% or Sestamibi Scintigraphy with a sensitivity and specificity of 92% and 68%. Coronary Computed Tomography Angiography (CCTA) with a sensitivity of 96% and NPV of 99% for excluding severe (≥ 70%) coronary stenosis could have been considered. This case highlights the importance of applying the correct diagnostic test when evaluating patients with chest pain. This is particularly important in women who are less likely to have coronary calcification and often have a lower calculated ASCVD risk score.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 3","pages":"Page e35"},"PeriodicalIF":3.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168311","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}