Journal of clinical lipidology最新文献

{"title":"Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia","authors":"Kathalina Puerto-Baracaldo MD, Mateo Amaya-Montoya MD, Gustavo Parra-Serrano MD, Diana C. Prada-Robles BSc MSc, Sergio Serrano-Gómez MD MSc, Lina M. Restrepo-Giraldo MD MSc, María C. Fragozo-Ramos MD, Verónica Tangarife BSc MSc, Germán C. Giraldo-González MD PhD, Carlos A. Builes-Barrera MD, Melisa S. Naranjo-Vanegas MD MSc, Andrés Gómez-Aldana MD, Juan Pablo Llano MD, Nayibe Gil-Ochoa BSc, Luz D. Nieves-Barreto MV MSc, Paula V. Gaete MD MSc, Maritza Pérez-Mayorga MD, Carlos O. Mendivil MD MSc PhD","doi":"10.1016/j.jacl.2024.08.006","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.08.006","url":null,"abstract":"The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood. To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia. In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes and . For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria. The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants: 19 in , 7 in , 11 in , 38 in , and 17 in . Eighteen of these variants had not been reported. We identified a new pathogenic variant in (c.41C>A; p.Ser14*), a new likely pathogenic variant in (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in , a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it ( = 0.001). Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in may be frequently associated with sHTG in this population.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190946","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":"Safety and efficacy of moderate-intensity statin plus ezetimibe versus high-intensity statin monotherapy in patients with atherosclerotic cardiovascular disease: A meta-analysis","authors":"Francinny Alves Kelly MD, Francisco Cezar Aquino de Moraes, Artur de Oliveira Macena Lôbo, Victória Morbach Siebel, Marianna Leite, Artur Menegaz de Almeida, Fernanda Marciano Consolim-Colombo MD","doi":"10.1016/j.jacl.2024.07.013","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.07.013","url":null,"abstract":"Atherosclerotic cardiovascular disease (ASCVD), affects approximately 18.6 million individuals worldwide and poses a significant healthcare related challenge. Despite the established efficacy of both high-intensity statin monotherapy (HIS) and moderate-intensity statin plus ezetimibe (MIS+EZT) in ASCVD management, the optimal treatment strategy remains unclear. A thorough literature study was conducted across PubMed, Embase, and the Cochrane databases, focusing on studies that compared the effects of moderate-intensity statins plus ezetimibe with high-intensity statin monotherapy in ASCVD patients. In the 13 included studies, involving 8,592 patients, 4,525 (52.67 %) of which received moderate-intensity statin plus ezetimibe treatment. The follow-up period ranged from 4 to 156 weeks, with participant ages varying LDL-C from 55.2 to 71 years old. Analysis revealed significant MIS+EZT-associated with greater percentages of patients achieved the goal in Low-Density Lipoprotein (LDL-C) < 70 (Odds Ratio (OR) 1.76; 95 % CI [1.26; 2.45]; = 0.001; I² = 73 %), LDL-C reduction (Mean Difference (MD) -5.05 mg/dL; 95 % CI [-9.02;-1.07]; < 0.013; I² = 56 %;); Total Cholesterol reduction (MD -7.91 mg/ dL; 95 % CI [-14.90; -0.91]; < 0.027; I² = 60 %); Triglycerides reduction (MD -8.20 mg/ dL; 95 % CI [-13.05; -3.35]; < 0.001; I² = 2 %;); There was no statistical difference between groups in Drug Adverse reaction (Risk Ratio (RR) 1.19; 95 % CI [0.79; 1.78]; = 0.404; I² = 0 %); and Drug intolerance (RR 0.78; 95 % CI [0.32; 1.92]; = 0.584; I² = 35 %). This meta-analysis highlights the effectiveness of MIS+EZT in improving significant lipid profile components for ASCVD patients, as can been seen through the greater percentage of patients achieving the LDL-C < 70 mg/dL target and lower LDL-C, total cholesterol and triglycerides levels. Importantly, there were no significant differences in the occurrence of overall adverse events and adverse drug reactions between the two groups.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190943","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":"Increased circulating levels of malondialdehyde-modified low-density lipoprotein in patients with coronary microvascular dysfunction","authors":"Tsuyoshi Ito MD, Masashi Yokoi MD, Shuichi Kitada MD, Yu Kawada MD, Tatsuya Mizoguchi MD, Shohei Kikuchi MD, Toshihiko Goto MD, Yoshihiro Seo MD","doi":"10.1016/j.jacl.2024.08.002","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.08.002","url":null,"abstract":"Coronary microvascular dysfunction (CMD) is associated with angina symptoms and adverse clinical outcomes in patients without obstructive coronary artery disease (CAD). Malondialdehyde-modified low-density lipoprotein (MDA-LDL) is reportedly a marker of the initiation and acceleration of epicardial coronary atherosclerosis. However, its impact on CMD remains unclear. We aimed to investigate the relationship between CMD and MDA-LDL levels. This study included 95 patients who did not receive lipid-lowering medications and had no obstructive CAD. Obstructive CAD was defined as >50 % diameter reduction on coronary angiography or fractional flow reserve of ≤0.80. We retrospectively analyzed coronary flow reserve (CFR), index of microcirculatory resistance (IMR), and MDA-LDL levels. CMD was defined as either CFR <2.0 or IMR ≥25. CMD was observed in 29 (31 %) patients. MDA-LDL levels were significantly higher in patients with CMD than in those without CMD (124.8 ± 37.6 vs. 95.3 ± 29.5 U/L; < 0.01). Univariable logistic regression analysis indicated a significant relationship between CMD and MDA-LDL levels (odds ratio (OR): 1.03; < 0.01). In the multivariable model, MDA-LDL levels were significantly associated with CMD (OR: 1.02; < 0.01). Regression analysis showed a significant correlation between MDA-LDL levels and CFR (r = -0.42, < 0.01) and IMR (r = 0.35, < 0.01). In the multiple regression analysis, MDA-LDL levels were independently associated with CFR (β = -0.30, < 0.01) and IMR (β = 0.26, = 0.02). MDA-LDL levels were associated with CMD in patients without obstructive CAD.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190944","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 association of low-density lipoprotein subtypes with coronary artery calcium score and atherosclerotic cardiovascular disease events: Insights from HeartSCORE study","authors":"Alaa Sayed MD MSc, Justin Swanson, Kevin Kip, Eshika Kumari Jesrani, Steven Reis, Anum Saeed MD","doi":"10.1016/j.jacl.2024.08.003","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.08.003","url":null,"abstract":"Elevated low-density lipoprotein (LDL) cholesterol is associated with risk of atherosclerotic cardiovascular disease (ASCVD). However, the association of midlife LDL subtypes in long-term clinical and subclinical ASCVD remains unknown. We examine LDL pattern associations with subclinical ASCVD. LDL subtypes were assessed in the Heart Strategies Concentrating on Risk Evaluation (Heart SCORE) study participants. Baseline coronary artery calcium (CAC) scores were calculated and long-term ASCVD events were assessed. Adjusted odds ratios and hazard ratios (95 % CI) were calculated to estimate the independent association between LDL patterns and CAC and ASCVD events, stratified by sex and race. 1,884 participants (age 59 ± 7.5 years. 66 % women, 44 % Black) were involved in the survival analysis; a subset of 740 (age 60.7 ± 7.3 years, 44 % women and 47 % Black) had their CAC score assessed. Men and Black individuals with LDL pattern AB had higher odds for positive CAC score (ORmen,patternAB = 2.47, 95 % CI [1.11-5.58]). Individuals with LDL patterns B (HR = 1.98, 95 % CI [1.22-3.21]; p-value < 0.05) and AB (HR = 1.54, 95 % CI of [1.00-2.38]; p-value < 0.05) were at a higher risk of ASCVD events. Self-identified Black individuals with type B and AB had higher risk of ASCVD events. In cohort of Black and White community dwellers, LDL patterns B and AB showed a higher risk of ASCVD events. Pattern AB was associated with positive CAC in men and Black individuals. Further studies investigating LDL patterns in ASCVD risk based on race and sex are needed to drive precise preventive strategies for ASCVD.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190945","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":"Fibrinogen and plasma clot properties are associated with apolipoprotein B and apolipoprotein B-containing lipoproteins in Africans","authors":"Daniel Bruwer MSc, Zelda de Lange-Loots PhD, Marlys L. Koschinsky PhD, Michael B. Boffa PhD, Marlien Pieters PhD","doi":"10.1016/j.jacl.2024.08.004","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.08.004","url":null,"abstract":"Case-control, intervention and laboratory studies have demonstrated a link between apolipoprotein B-containing lipoproteins and clot structure and thrombosis. There is, however, limited evidence on population level. We determined the cross-sectional relationship between lipoprotein(a) (Lp(a)), low-density lipoprotein cholesterol (LDL-C), and apolipoprotein B (ApoB) with fibrinogen and plasma clot properties in 1 462 Black South Africans, a population with higher fibrinogen and Lp(a) levels compared with individuals of European descent. Data were obtained from participants in the South African arm of the Prospective Urban and Rural Epidemiology study. Clot properties analysed included lag time, slope, maximum absorbance, and clot lysis time (turbidity). Lp(a) was measured in nM using particle-enhanced immunoturbidimetry. General linear models (GLM) were used to determine the associations between ApoB and ApoB-containing lipoproteins with fibrinogen and plasma clot properties. Stepwise regression was used to determine contributors to clot properties and Lp(a) variance. GLM and regression results combined, indicated fibrinogen concentration and rate of clot formation (slope) had the strongest association with Lp(a); clot density associated positively with both Lp(a) and LDL-C; time to clot formation associated negatively with ApoB; and CLT demonstrated strong positive associations with both ApoB and LDL-C, while its association with Lp(a) was fibrinogen concentration dependent. These findings suggest that ApoB and the lipoproteins carrying it contribute to prothrombotic clot properties in Africans on epidemiological level and highlight potential novel prothrombotic roles for these (apo)lipoproteins to be considered for the development of targeted therapeutic approaches to address thrombotic conditions related to clot properties.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142190947","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":"Attitudes and barriers to lipoprotein(a) testing: A survey of providers at the University of Pennsylvania health system","authors":"Jillian D'Souza BS, Daniel E. Soffer MD, Archna Bajaj MD MSCE","doi":"10.1016/j.jacl.2024.07.012","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.07.012","url":null,"abstract":"Guidelines recommend checking lipoprotein(a) [Lp(a)] levels in patients at high-risk for cardiovascular disease, with more recent recommendations advocating for universal screening in all adults. A brief electronic survey was distributed to select groups of University of Pennsylvania Health Systems (UPHS) providers, including Internal Medicine and Cardiology physicians and advance practice providers, to understand the current attitudes and barriers to testing for Lp(a). Of the 126 survey respondents, only 31 % answered that they test for Lp(a) regularly in their practice. Presence of ASCVD and a family history of ASCVD were the most common reasons for testing. Most survey respondents (69 %) replied that they do not currently check Lp(a) levels in patients. The most common reasons provided included lack of familiarity with Lp(a), insurance/ billing concerns, lack of clinical trial outcomes data, and lack of available pharmaceutical interventions. Results from ongoing clinical trials of novel Lp(a)-lowering therapies, if successful, may address provider hesitation toward Lp(a)-testing, but there remains a large gap to fill in awareness of Lp(a).","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141948097","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 relationship between ceramide profile and residual inflammatory risk in patients with coronary artery disease: Insights from an prospective study","authors":"Liang Zhang M.D., YaoDong Ding M.D., MingHui Chen, XinPing Gao, HuiQing Liang M.D., DaWei Tan M.D., XiuFen Li, Lin Li PhD, Yong Zeng M.D.","doi":"10.1016/j.jacl.2024.07.009","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.07.009","url":null,"abstract":"Although progress has been made in managing cholesterol, targeting inflammation is essential for further reducing cardiovascular risk, as CVDs remain the leading cause of death globally. This study aimed to explore the association between plasma ceramide levels and residual inflammatory risk in patients with CAD. A cross-sectional observational design was adopted using data from a secondary analysis of a multicenter prospective cohort study in China. Patients were categorized into two groups based on a hs-CRP level of 2.0mg/L. Plasma ceramide levels were measured using the LC-MS/MS system. By collecting and statistically analyzing patient demographic and clinical characteristics, differences were compared between the low residual inflammatory risk group (Low RIR) and the high residual inflammatory risk group (High RIR). Multivariate logistic regression analysis was used to assess the interaction of plasma ceramides with high residual inflammation risk. A total of 778 patients with confirmed CAD were included in the study. Compared to the Low RIR, Cer (d18:1/16:0), Cer (d18:1/18:0), Cer (d18:1/20:0), Cer (d18:1/22:0), Cer (d18:1/24:0), and Cer (d18:1/24:1), were significantly elevated in the High RIR group. Spearman correlation analysis indicated that Cer (d18:1/16:0) levels were positively correlated with hsCRP. Further multivariable logistic regression analysis revealed that Cer (d18:1/16:0) was a significant independent indicator of high RIR beyond conventional cardiovascular risk factors. This study found a significant association between specific plasma ceramide Cer (d18:1/16:0) and high residual inflammatory risk in CAD patients, suggesting it could be an important inflammatory biomarker in the management of cardiovascular diseases.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141948098","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":"Utilizing innovative implementation strategies for familial hypercholesterolemia: Implementation outcomes from the IMPACT-FH study","authors":"Gemme Campbell-Salome PhD, Kelly M. Morgan MS, Jazmine Gabriel PhD, Mary P. McGowan MD, Nicole L. Walters BS, Andrew Brangan BS, Eric P. Tricou MS, Alanna K. Rahm PhD, Amy C. Sturm MS, Laney K. Jones PharmD MPH","doi":"10.1016/j.jacl.2024.07.011","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.07.011","url":null,"abstract":"Cascade testing can be highly effective in identifying individuals with familial hypercholesterolemia (FH) and help prevent atherosclerotic cardiovascular disease. The IMPACT-FH cascade testing program offered multiple optimized implementation strategies to improve FH cascade testing uptake. Guided by the Conceptual Model of Implementation Research, this study assessed the IMPACT-FH cascade testing program's implementation outcomes. Implementation outcomes were assessed qualitatively and quantitatively. Interviews were conducted with 33 IMPACT-FH program participants including 15 probands, 12 relatives, and 6 healthcare professionals (HCPs). Transcripts were analyzed using thematic analysis to investigate implementation outcomes. Descriptive statistics were analyzed for scaled implementation outcome measures asked after interviews. Participants described adopting strategies offered in the IMPACT-FH program because they presented an opportunity to pursue low-cost FH cascade testing. Participants identified barriers to feasibility including: the complexity of disclosing an FH result and offering strategies on, inherent limitations of probands choosing strategies, confusion over testing costs, limitations sharing with relatives’ clinicians, discomfort with chatbot technology, and concerns about the workload for HCPs. Participants evaluated the program positively regarding its appropriateness (Mean (M) = 4.70, Standard Deviation (SD) = 0.41), acceptability (M = 4.79, SD = 0.40), and feasibility (M = 4.24, SD = 0.53). The IMPACT-FH cascade testing program and its strategies were evaluated as valuable to adopt and highly appropriate, acceptable, and feasible by participants. Participants identified areas to enhance the program that could improve FH cascade testing uptake.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141948099","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":"Race/ethnicity and socioeconomic status affect the assessment of lipoprotein(a) levels in clinical practice","authors":"Marianna Pavlyha MD, Yihao Li MS, Sarah Crook MS, Brett R. Anderson MD, Gissette Reyes-Soffer MD","doi":"10.1016/j.jacl.2024.07.003","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.07.003","url":null,"abstract":"High Lp(a) levels are a risk factor for ASCVD, however Lp(a) ordering in clinical practice is low. This study examines how race/ethnicity and socioeconomic status influence Lp(a) ordering. This is a single center, retrospective study (2/1/2020-6/30/2023) using electronic medical records of adults at least one personal ICD-10 diagnosis of ASCVD, aortic valve stenosis, resistant hypercholesterolemia (LDL-C >160 mg/dL on statin therapy), family history of ASCVD or high Lp(a). We evaluated Lp(a) level differences among racial/ethnic groups and sexes. We also assessed associations between diagnosis type, diagnosis number, age at diagnosis, race, socioeconomic score (based on zip codes), public health coverage and the presence of Lp(a) orders. 4 % of our cohort (N=2,249 in 56,833) had an Lp(a) order (17.3 % Hispanic, 8.7 % non-Hispanic Black, 47.5 % non-Hispanic White and, 27 % Asian/others). Non-Hispanic Black and Hispanic patients had lower rates of Lp(a) orders (0.17 %, 0.28 %, respectively) when compared to non-Hispanic White patients (2.35 %), < 0.001, however, their median Lp(a) levels were higher ( < 0.001). Individuals belonging to deprived socioeconomic groups or on Medicaid, were less likely to have an Lp(a) order (IRR = 0.39, < 0.001 and IRR = 0.40, < 0.001 respectively). Certain diagnoses (carotid stenosis, family history of ASCVD and FH) and multiple diagnoses (>2) resulted in more Lp(a) orders compared to those with only one diagnosis ( < 0.001). Lp(a) ordering is low in patients with or at risk for ASCVD. Non-Hispanic Black and Hispanic patients are less likely to have an Lp(a) order. Individuals residing in socioeconomically deprived neighborhoods and on Medicaid are also less like have Lp(a) order. Lp(a) orders depend on the type and number of patients’ diagnoses.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141881476","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":"Validation of physical examinations of tendon xanthomas and changes in the cutoff values of Achilles tendon thickness on radiography in the clinical criteria of heterozygous familial hypercholesterolemia in Japan","authors":"Hayato Tada MD, Atsushi Nohara MD, Soichiro Usui MD, Kenji Sakata MD, Masa-aki Kawashiri MD, Masayuki Takamura MD","doi":"10.1016/j.jacl.2024.06.008","DOIUrl":"https://doi.org/10.1016/j.jacl.2024.06.008","url":null,"abstract":"The 2022 Japan Atherosclerosis Society familial hypercholesterolemia (FH) clinical criteria were modified. In particular, the cutoff value of Achilles tendon thickness (ATT) on radiography was changed from ≥9 mm in both sexes to ≥8.0 mm in men and ≥7.5 mm in women. A total of 872 patients with FH were retrospectively reviewed. Patients were categorized by an ATT of <7.5/8.0 mm (group 1), ≥7.5/8.0 and <9.0 mm (group 2, new group with FH by ATT), and ≥9 mm (group 3). In total, 492 patients fell into in group 1, 102 in group 2, and 263 in group 3, and 14.0%, 55.9%, and 79.8% of patients in groups 1, 2, and 3, respectively, were positive for a FH mutation. Further, among patients with an LDL cholesterol >180 mg/dL, 37.3%, 77.3%, and 86.5% of patients had a FH mutation in groups 1, 2, and 3, respectively. The proportion of patients with protein-truncating mutation (3.8%, 16.7%, and 53.2%, respectively) differed significantly across groups 1 through 3, respectively. Interestingly, only a very small proportion of the patients in groups 2 and 3 had palpable xanthomas (3.0% and 14.4% respectively). This study validates the new radiographic ATT criteria, since the vast majority of patients in the intermediate ATT category had true FH, as shown by positive genetic testing, whereas the old ATT criteria left them with just a deferred diagnosis of FH. In addition, use of physical examination alone for the presence of tendon xanthoma may lead to underdiagnosis of FH.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141611981","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}