Journal of clinical lipidology最新文献

{"title":"Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council’s (GCC’s) high consanguineous population","authors":"Mohammed A. Almuqbil MD, FRCPC, ABPN, FACMG/ABMGG, FAAN, MMED ,&nbsp;Mashael M. ALQuaimi MD ,&nbsp;AL Qasim Al-Bahlani MD ,&nbsp;Arif O. Khan MD ,&nbsp;Badr Alsaleem MD ,&nbsp;Maryam Busehail MD ,&nbsp;Raashda A. Sulaiman MD ,&nbsp;Tawfeg Ben Omran MD ,&nbsp;Zahra Alsahlawi MD ,&nbsp;Zuhair N. Al-Hassnan MD ,&nbsp;Reem AlHaddad BS ,&nbsp;Saeed Bohlega MD","doi":"10.1016/j.jacl.2025.04.198","DOIUrl":"10.1016/j.jacl.2025.04.198","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disorder characterized by diverse neurological and extra-neurological manifestations. In children, chronic diarrhea, neonatal cholestasis, and cataracts are characteristics and often precede neurological symptoms, while adults typically present with cognitive decline and gait disturbances. This variability contributes to frequent misdiagnosis and delays in diagnosis, leading to significant neurological deterioration.</div></div><div><h3>OBJECTIVE</h3><div>To explore the clinical and genetic diversity of CTX cases in the Gulf Cooperation Council (GCC) region, comparing the phenotypic differences between children and adults.</div></div><div><h3>METHODS</h3><div>The retrospective, multicenter, descriptive study included 16 clinically and genetically confirmed CTX cases. Data collected encompassed clinical presentations, diagnostic delays, biochemical markers such as cholestanol levels, neuroimaging findings, and genetic mutations in the <em>CYP27A1</em> gene. Participants were categorized into pediatric and adult groups.</div></div><div><h3>RESULTS</h3><div>Common clinical features included cognitive decline (75%), learning difficulties (69%), diarrhea (56%), cataracts (56%), gait issues (50%), and behavioral changes (44%). Notably, childhood diarrhea was strongly associated with earlier diagnosis, with approximately 90% of such cases identified in this age group. Misdiagnosis occurred in 3 patients, with an average diagnostic delay of 6.1 years—shorter for children (2.7 years) compared to adults (11.6 years). Tendon xanthoma was observed in only 1 patient. Genetic testing identified 7 <em>CYP27A1</em> variants, highlighting genetic heterogeneity in this population.</div></div><div><h3>CONCLUSION</h3><div>This study emphasizes the need for increased physician awareness, particularly regarding pediatric presentations, to reduce diagnostic delays and prevent irreversible neurological damage. These findings support integration of targeted genetic testing and early screening programs to improve patient outcomes.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1000-1008"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248140","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":"Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia","authors":"Shyann Hang MD ,&nbsp;Jian Wang MD ,&nbsp;Zahra Taboun MD,MSc ,&nbsp;Adam D. McIntyre BSc ,&nbsp;Robert A. Hegele MD","doi":"10.1016/j.jacl.2025.05.021","DOIUrl":"10.1016/j.jacl.2025.05.021","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Heterozygous pathogenic variants in <em>PPARG</em> cause familial partial lipodystrophy type 3 (FPLD3; Mendelian Inheritance in Man [MIM] #604367), a heritable form of insulin resistance with multiple metabolic disturbances including hypertriglyceridemia. We investigated the prevalence of FPLD3 individuals in our cohort of patients with multifactorial chylomicronemia syndrome (MCS).</div></div><div><h3>METHODS</h3><div>We used our targeted DNA sequencing panel to screen the <em>PPARG</em> gene in 182 clinically diagnosed MCS patients.</div></div><div><h3>RESULTS</h3><div>We found that 3.3% of MCS patients (6/182) had a heterozygous pathogenic <em>PPARG</em> variant, consistent with a diagnosis of FPLD3. The variants were <em>PPARG</em> p.Lys186fs (ClinVar identifier 8132), p.Glu217Lys, p.Pro454fs (ClinVar identifier 436405), p.Met284Ile, p.Ser383Arg, and p.Arg181Trp. None of these patients had previously been diagnosed with FPLD3 and their clinical and biochemical features were otherwise comparable to those of the entire MCS cohort.</div></div><div><h3>CONCLUSION</h3><div>A small but clinically relevant subgroup of individuals with MCS has FPLD3. Clinical features in FPLD3 are subtle but the phenotype can be metabolically severe. Genetic screening of patients with severe hypertriglyceridemia should include assessment of lipodystrophy genes, since management of lipodystrophy patients is distinct from that of typical MCS patients.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1085-1090"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564818","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":"Hypertriglyceridemia and its relationship with all-cause mortality and pancreatitis: Results from a large retrospective clinical registry","authors":"Bogdan Vlacho PharmD, MSc, PhD ,&nbsp;Josep Julve PhD ,&nbsp;Idoia Genua MD, PhD ,&nbsp;Berta Fernández-Camins MD ,&nbsp;Jordi Real PhD ,&nbsp;Josep Franch-Nadal MD, PhD ,&nbsp;Didac Mauricio MD, PhD ,&nbsp;Emilio Ortega MD, PhD","doi":"10.1016/j.jacl.2025.04.195","DOIUrl":"10.1016/j.jacl.2025.04.195","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Hypertriglyceridemia (HTG) is a potential risk factor for mortality and pancreatitis; however, real-world data remain limited.</div></div><div><h3>OBJECTIVE</h3><div>We aimed to investigate whether elevated triglyceride (TG) levels may identify individuals at a higher risk of all-cause mortality or increased incidence of all-cause pancreatitis in our Mediterranean primary care population.</div></div><div><h3>METHODS</h3><div>We conducted a retrospective analysis using the SIDIAP primary care database to assess HTG prevalence and its association with all-cause mortality and pancreatitis. Subjects were categorized into 5 TG level groups, (from &lt;150 mg/dL to &gt;880 mg/dL). Logistic and Cox regression models adjusted for different covariates were used.</div></div><div><h3>RESULTS</h3><div>HTG (&gt;150 mg/dL) had a prevalence of 22.8%, whereas that of severe HTG (&gt;500 mg/dL) was 0.8%. From 2010 to 2020, 2,256,261 individuals were followed up for a median of 7.78 years. The cumulative incidence rates for all-cause pancreatitis and all-cause mortality were 0.44% and 8.37%, respectively. Individuals with previously reported pancreatitis (n = 6527, 0.3%) showed higher incidence rates of all-cause pancreatitis (7.37%) and all-cause mortality (22.54%) than those without previous history of this outcome (pancreatitis: 0.42%; mortality: 8.33%, respectively). Adjusted analyses revealed an increasingly higher risk of all-cause pancreatitis across TG categories, with the highest risk for TG ≥ 880 mg/dL levels (hazard ratio [HR]: 3.79, 95% CI: 3.10; 4.63). The risk for all-cause mortality (HR: 1.08, 95% CI: 1.06; 1.09 and HR: 1.11, 95% CI: 1.07; 1.14) was observed for TG (150-299, 300-499) compared to those with TG &lt; 150 mg/dL. Individuals with TG ≥ 500 mg/dL had the highest excess risk for all-cause pancreatitis (HR: 2.66, 95% CI: 2.30; 3.07) and mortality (HR: 1.15, 95% CI: 1.08; 1.23), even after adjusting for confounders.</div></div><div><h3>CONCLUSION</h3><div>HTG is common and independently predicts mortality and pancreatitis in a real-world primary care setting. Future trials should evaluate lifestyle and TG-lowering interventions to mitigate these risks.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 922-930"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225618","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":"Implementation of a machine learning model and direct-to-patient outreach program for targeted screening for familial hypercholesterolemia","authors":"Kerrilynn C. Hennessey MD ,&nbsp;Shoshana H. Bardach PhD ,&nbsp;Terry Sturke MS ,&nbsp;Vikrant S. Vaze PhD ,&nbsp;Roshni S. Kalkur MD ,&nbsp;Adam J. Prince MD ,&nbsp;Hanyuan Shi MD ,&nbsp;Marc A. Hofley MD ,&nbsp;Peter Chin PhD ,&nbsp;Rachel Forcino PhD, Msc ,&nbsp;Mary P. McGowan MD","doi":"10.1016/j.jacl.2025.04.192","DOIUrl":"10.1016/j.jacl.2025.04.192","url":null,"abstract":"<div><h3>OBJECTIVES</h3><div>Heterozygous familial hypercholesterolemia (FH) is underdiagnosed. This program evaluated the impact of implementing a machine learning model (MLM), expert chart review and clinical consultation in the diagnosis of FH.</div></div><div><h3>METHODS</h3><div>Flag, Identify, Network and Deliver FH (FIND-FH) was applied to 147,412 unique patient records in the Dartmouth Health system and identified 388 adult patients at risk for FH. Lipidologists and cardiologists performed chart reviews using FH clinical criteria. Patients were excluded from outreach if they had an established diagnosis of FH, a lipidologist, insufficient information to suspect FH, a low likelihood of FH, moved, died, or had alternative medical priorities at the time of review.</div></div><div><h3>RESULTS</h3><div>Among 388 flagged patients, median age was 50 years (IQR: 39-59 years), 43% were female, and 88% self-identified as white. After expert review, 208 (54%) patients were removed from outreach for meeting exclusion criteria. The majority of those excluded had a low likelihood of having FH (115/208, 55%). The median low-density lipoprotein cholesterol (LDL-C) in excluded patients was 134 mg/dL (IQR: 102-154 mg/dL) compared to 172 mg/dL (IQR: 132-216 mg/dL) in patients selected for outreach. A high-touch, direct-to-patient outreach process yielded 72 clinical visits (19%) and 58 new diagnoses of possible/probable/definite FH (15%).</div></div><div><h3>CONCLUSION</h3><div>The Find-FH MLM flagged 388 individuals as “at risk” for FH of whom 58 (15%) ultimately received a diagnosis of possible/probable/definite FH. While this represents a substantial improvement on 1:250 (0.4%) expected when screening the general population, it was labor intensive. For scalability, improved accuracy of the MLM and efficiency of chart review and outreach are needed.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1029-1036"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248077","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":"Multidisciplinary teams in clinical lipidology and cardiometabolic care: A National Lipid Association Expert Clinical Review","authors":"Mary Katherine Cheeley PharmD, CLS, FNLA ,&nbsp;Carol F. Kirkpatrick PhD, MPH, RDN, CLS, FNLA ,&nbsp;Emily E. Brown MGC, CGC ,&nbsp;Dave L. Dixon PharmD, CLS, FNLA ,&nbsp;Heather Gunter MSN, MBA, RN, NE-BC ,&nbsp;Diane S. Osborn ANP, CLS, FNLA ,&nbsp;Michael J. Wilkinson MD, FNLA","doi":"10.1016/j.jacl.2025.05.002","DOIUrl":"10.1016/j.jacl.2025.05.002","url":null,"abstract":"<div><div>This National Lipid Association Expert Clinical Review (ECR) describes the roles of multidisciplinary care team members in optimizing the management of lipid disorders and promoting cardiometabolic health, including the contributions of physicians, advanced practice providers, pharmacists, registered dietitian nutritionists, nurses, and genetic counselors. Patients benefit from a collaborative approach to the management of dyslipidemias and cardiometabolic risk through improved diagnosis and treatment, access to comprehensive and evidence-based lifestyle interventions, optimization of pharmacotherapy, and patient education and empowerment. Certain multidisciplinary team members may not be readily accessible in all practice settings. Therefore, this ECR provides suggestions for accessing community resources to expand the reach of multidisciplinary care to a greater number of patients.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 737-747"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248078","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":"When ‘good’ cholesterol goes awry: Cross-sectional association of high HDL-C with prevalent sarcopenia in U.S. adults","authors":"Rong-Zhen Xie MS ,&nbsp;Xu-Song Li PhD ,&nbsp;Wei-Qiang Zhao MS ,&nbsp;Yu-Feng Liang MS ,&nbsp;Jiang Hua MS ,&nbsp;Jie-Feng Huang PhD","doi":"10.1016/j.jacl.2025.06.005","DOIUrl":"10.1016/j.jacl.2025.06.005","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Sarcopenia—the progressive loss of muscle mass and function—is linked to metabolic dysregulation. Although high-density lipoprotein cholesterol (HDL-C) is usually protective, emerging data suggest a “U-shaped” association with adverse outcomes. We examined the relation between HDL-C and sarcopenia and evaluated mediation by neutrophil-to-lymphocyte ratio (NLR) and homeostasis model assessment of insulin resistance (HOMA-IR).</div></div><div><h3>METHODS</h3><div>We analyzed 2167 National Health and Nutrition Examination Survey 2011 to 2014 adults (≥20 years) with complete dual-energy X-ray absorptiometry, grip-strength, and lipid data. Sarcopenia followed European Working Group on Sarcopenia in Older People 2 criteria. Survey-weighted logistic models progressed from age-sex-ethnicity (Model 1) to body mass index (BMI) (Model 2) and full socioeconomic and clinical covariates (Model 3). HDL-C was treated continuously and as 5 bands (&lt;40, 40-50, 50-60, 60-70, &gt;70 mg/dL). Bias-corrected bootstrap mediation tested indirect effects via NLR and HOMA-IR.</div></div><div><h3>RESULTS</h3><div>HDL-C was positively associated with sarcopenia in univariate analysis, but the relation disappeared after full adjustment; adding BMI reduced the coefficient by 23%. HDL-C &gt; 70 mg/dL (n = 327) independently predicted sarcopenia (odds ratio: 1.04 per 1 mg/dL, 95% CI, 1.00-1.08). Lower strata were non-significant. NLR showed no mediation. HOMA-IR exerted a small, negative indirect effect (&lt;1% of total).</div></div><div><h3>CONCLUSION</h3><div>Extremely elevated HDL-C levels have been associated with an increased risk of sarcopenia, indicating a potentially complex underlying relationship. HOMA-IR may partially mediate this association, highlighting the need for further mechanistic investigations. These findings underscore the importance of considering insulin resistance and overall metabolic health in the assessment and management of sarcopenia risk.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 912-921"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600561","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 genetics and lifestyles for precision nutrition in hypertriglyceridemia: A UK Biobank and KoGES analysis","authors":"Haeng Jeon Hur PhD ,&nbsp;Hye Jeong Yang PhD ,&nbsp;Min Jung Kim PhD ,&nbsp;Hyun-Jun Jang PhD ,&nbsp;Myung-Sunny Kim PhD ,&nbsp;Sunmin Park PhD","doi":"10.1016/j.jacl.2025.04.202","DOIUrl":"10.1016/j.jacl.2025.04.202","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Hypertriglyceridemia is an independent risk factor for cardiovascular disease.</div></div><div><h3>OBJECTIVE</h3><div>This study examined the polygenic variants associated with high serum triglyceride concentration (high-TG) and their interactions with lifestyle factors using data from the UK Biobank (n = 479,300) and the Korean Genome and Epidemiology Study (KoGES; n = 57,939).</div></div><div><h3>METHODS</h3><div>High-TG group was categorized based on over 200 mg/dL fasting serum TG concentrations (Caucasians, UK Biobank, n = 100,543; Koreans, KoGES, n = 7211). Polygenic risk scores (PRS) were calculated using risk alleles from genetic variants identified through a genome-wide association study (GWAS) and generalized multifactor dimensionality reduction (GMDR) analyses.</div></div><div><h3>RESULTS</h3><div>Koreans showed higher frequencies of risk alleles in <em>GCKR, APOA5, SIK3</em>, and <em>APOE</em> genes compared to Caucasians. After adjusting for covariates, a PRS including lipoprotein lipase (<em>LPL</em>)_rs328, apolipoprotein A5 (<em>APOA5)</em>_rs2072560, and glucokinase regulator (<em>GCKR)</em>_rs780093 showed a 2.2-fold (UK Biobank) and 2.6-fold (KoGES) increased risk of high-TG among Caucasians and Koreans, respectively. In both cohorts, the PRS was positively associated with metabolic syndrome, serum low high-density lipoprotein (HDL)-cholesterol, and high low-density lipoprotein (LDL)-cholesterol concentrations, but inversely associated with high-TG. These variants were linked to the chylomicron and very low-density lipoprotein (VLDL) remodeling pathways in Multimarker Analysis of GenoMic Annotation (MAGMA) gene analysis. Significant interactions were observed between the PRS and lifestyle factors, namely plant-based diet (<em>P</em> = .0008), alcohol consumption (<em>P</em> = .0022), and smoking status (<em>P</em> &lt; .001) in both cohorts. Additionally, in the KoGES cohort, vitamin D intake (<em>P</em> = .027) and the glycemic index (<em>P</em> = .045) interacted with the PRS to influence high-TG risk.</div></div><div><h3>CONCLUSION</h3><div>Similar genetic variants affected high-TG risk across populations despite ethnic differences in risk allele frequencies. The identified PRS significantly interacted with plant-based diet, alcohol consumption, and smoking status in both cohorts, with additional interactions observed with vitamin D intake and glycemic index in the Korean cohort.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 942-959"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293779","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 disparities in access to lipid-lowering therapies for patients with homozygous familial hypercholesterolemia – A physician survey","authors":"Willemijn A.M. Schonck MD ,&nbsp;Janneke W.C.M. Mulder MD ,&nbsp;Tycho R. Tromp MD, PhD ,&nbsp;Laurens F. Reeskamp MD, PhD ,&nbsp;G. Kees Hovingh MD, PhD ,&nbsp;Jeanine E. Roeters van Lennep MD, PhD ,&nbsp;Dirk J. Blom MD, PhD","doi":"10.1016/j.jacl.2025.05.003","DOIUrl":"10.1016/j.jacl.2025.05.003","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Lipid levels and atherosclerotic cardiovascular disease (ASCVD) outcomes have been shown to differ globally in patients with homozygous familial hypercholesterolemia (HoFH), which may be related to availability and accessibility of lipid-lowering therapy (LLT).</div></div><div><h3>OBJECTIVE</h3><div>In the current study, we investigated global disparities in availability and accessibility of LLTs for patients with HoFH.</div></div><div><h3>METHODS</h3><div>Physicians participating in the HoFH International Clinical Collaborators (HICC, NCT04815005) were invited to complete an online survey on registration status, reimbursement, and access to various LLTs. Responses were compared between high-income and non-high-income countries.</div></div><div><h3>RESULTS</h3><div>Responses were received from 87 physicians (64.4% from high-income countries). Physicians from high-income countries reported significantly higher registration rates for proprotein convertase subtilisin/kexin type 9 monoclonal antibodies (PCSK9 mAbs) (96.4% vs 51.6%), lomitapide (83.6% vs 9.7%), evinacumab (69.1% vs 0.0%), colesevelam (50.0% vs 3.2%), and lipoprotein-apheresis (96.4% vs 45.2%). Public sector reimbursement was also more common in high-income countries for PCSK9 mAbs (90.9% vs 24.1%), lomitapide (74.5% vs 3.4%), evinacumab (60.0% vs 0.0%), colesevelam (40.0% vs 3.4%), and lipoprotein-apheresis (94.5% vs 37.9%). Access to LLTs was also higher in high-income countries for statins (91.1% vs 61.3%), ezetimibe (87.5% vs 38.7%), PCSK9 mAbs (53.6% vs 6.5%), lomitapide (32.% vs 0.0%), evinacumab (32.1% vs 3.2%), colesevelam (39.3% vs 3.2%), and lipoprotein-apheresis (57.1% vs 3.2%).</div></div><div><h3>CONCLUSION</h3><div>Our results confirm significant global disparities in LLT registration, reimbursement, and access between high-income and non-high-income countries. Improving LLT availability and accessibility, particularly in non-high-income countries, is essential to improve outcomes in patients with HoFH.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1009-1019"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248142","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":"Shorter prepubertal children have higher cholesterol levels","authors":"Jan Kafol MD ,&nbsp;Mia Becker MD ,&nbsp;Urh Groselj MD, PhD.","doi":"10.1016/j.jacl.2025.05.025","DOIUrl":"10.1016/j.jacl.2025.05.025","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1181-1183"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567437","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 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}