Journal of clinical lipidology最新文献

{"title":"Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.","authors":"Jean G V Coutinho, Ana C S Costa, Milka M M Issa, Neiva P Paim, Elisangela P S Quedas, Valeria S Nunes, Alexander A L Jorge, Edna R Nakandakare, Alexandre J F Carrilho","doi":"10.1016/j.jacl.2025.06.007","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.06.007","url":null,"abstract":"<p><strong>Background: </strong>Sitosterolemia is a rare autosomal recessive disease characterized by elevated phytosterol levels in the bloodstream and tissues due to increased absorption and reduced biliary excretion. This condition arises from mutations in one of two genes, ABCG5 or ABCG8, located on chromosome 2p21.</p><p><strong>Objective: </strong>We report the case of a patient, and his first-degree relatives, diagnosed with sitosterolemia at the age of 23.</p><p><strong>Methods: </strong>The patient was monitored for 21 years, during which he was advised to adopt a low-plant sterol diet and was treated with ezetimibe.</p><p><strong>Results: </strong>Over this period, he experienced resolution of splenomegaly and thrombocytopenia, stabilization or reduction in xanthoma growth, and absence of cardiovascular events. Despite these clinical improvements, plasma concentrations of campesterol and β-sitosterol remained above normal levels. Genetic analysis identified two variants in the ABCG5 gene (NM_022436.3): c.64C>T:p.(Gln22*) in exon 1 (rs781098379), a known pathogenic variant, and c.1217G>A p.(Arg406Gln) in exon 9 (rs375364242), described as likely pathogenic.</p><p><strong>Conclusion: </strong>We propose that the exon 9 variant is indeed pathogenic.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690461","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":"Cholesteryl ester transfer protein activity correlates inversely with apolipoprotein A5 levels.","authors":"Yi Wen, Hongxia Li, Sydney Smith, Yanzhu Lin, Yan Q Chen, Melissa Bellinger, Eugene Y Zhen, Thomas P Beyer, Robert W Siegel, Yuewei Qian, Giacomo Ruotolo, Robert J Konrad","doi":"10.1016/j.jacl.2025.06.008","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.06.008","url":null,"abstract":"<p><strong>Background: </strong>Cholesteryl ester transfer protein (CETP) mediates the exchange of triglycerides (TG) from apolipoprotein B (ApoB)-containing lipoproteins to high-density lipoproteins (HDL) and the reciprocal exchange of cholesterol (C) from HDL to ApoB-containing lipoproteins. CETP inhibition increases HDL-C and decreases low-density lipoprotein cholesterol (LDL-C) while modestly decreasing TG. Considering that CETP inhibitors block removal of TG from TG-rich lipoproteins (TRL), it is interesting that CETP inhibition decreases TG concentrations. TG levels are largely regulated by lipoprotein lipase (LPL), the enzyme primarily responsible for hydrolyzing TG. The angiopoietin-like 3/8 complex (ANGPTL3/8) is the most potent circulating LPL inhibitor, while the TG-lowering apolipoprotein A5 (ApoA5) acts by suppressing ANGPTL3/8-mediated LPL inhibition.</p><p><strong>Methods: </strong>To better understand CETP biology, we studied the effects of CETP overexpression and CETP inhibition on the levels of ANGPTL3/8 and ApoA5 in circulation using dedicated immunoassays.</p><p><strong>Results: </strong>CETP-overexpressing transgenic mice had increased TG and normal ANGPTL3/8 levels but manifested dramatically reduced ApoA5 concentrations. Administration of the CETP inhibitor evacetrapib had no effect on ANGPTL3/8 levels in CETP-overexpressing mice or in humans. However, evacetrapib administration increased ApoA5 concentrations in both species. In human subjects, evacetrapib treatment increased circulating ApoA5 levels in the late-stage ACCELERATE and ACCENTUATE studies by 160.1% and 204.7%, respectively.</p><p><strong>Conclusions: </strong>Our results uncover a previously unrecognized link between CETP and ApoA5 by showing that CETP overexpression reduces ApoA5 levels while CETP inhibition increases ApoA5 concentrations.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591303","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":"Age and effect of intensive statin in acute mild ischemic stroke or transient ischemic attack: Subgroup analysis of the INSPIRES trial.","authors":"Lingling Jiang, Yuanwei Wang, Ying Gao, S Claiborne Johnston, Pierre Amarenco, Philip M Bath, Hongyi Yan, Xuan Wang, Yingying Yang, Tingting Wang, Yuesong Pan, Yongjun Wang, Weiqi Chen, Yilong Wang","doi":"10.1016/j.jacl.2025.05.016","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.016","url":null,"abstract":"<p><strong>Background: </strong>It is unclear whether immediate-intensive statin is safe and effective for patients age 65 years and older with acute cerebral ischemia associated with atherosclerosis.</p><p><strong>Methods: </strong>Patients from the Intensive Statin and Antiplatelet Therapy for High-risk Intracranial or Extracranial Atherosclerosis (INSPIRES) trial were divided into an elderly group (≥ 65 years, n = 2960) and a younger group (< 65 years, n = 3140). Primary exposures were age category and statin treatment allocation. The primary efficacy outcome (new stroke within 90 days), and the primary safety outcome (moderate-to-severe bleeding), were analyzed through Cox proportional hazards models. Secondary outcomes included composite vascular event and any bleeding (Cox regression), plus poor functional outcome (binary logistic regression). Age-treatment interactions were tested by Cox models.</p><p><strong>Results: </strong>In elderly patients, higher proportions of stroke (hazard ratio [HR], 1.22; 95% CI, 1.02-1.47; P = .03), composite vascular event (HR, 1.26; 95% CI, 1.05-1.51; P = .01), poor functional outcome, and any bleeding were observed. Specifically, 124 (8.3%) elderly patients who received immediate statin therapy and 138 (9.4%) patients with delayed statin therapy experienced a stroke within 90 days, while in younger patients, 121 (7.7%) patients with immediate statin therapy and 118 (7.5%) patients with delayed statin therapy suffered a new stroke. There were no age and treatment interactions for risk of new stroke, moderate-to-severe bleeding, composite vascular event, poor functional outcome, and any bleeding events.</p><p><strong>Conclusion: </strong>Immediate vs delayed intensive statin therapy demonstrates comparable safety and treatment response profiles in older and younger patients.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600560","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, Mia Becker, Urh Groselj","doi":"10.1016/j.jacl.2025.05.025","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.025","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-06","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":"ApoB, LDL-C, and non-HDL-C as markers of cardiovascular risk.","authors":"Daniel Sehayek, Justine Cole, Elias Björnson, John T Wilkins, Martin B Mortensen, Line Dufresne, Karol M Pencina, Michael J Pencina, George Thanassoulis, Allan D Sniderman","doi":"10.1016/j.jacl.2025.05.024","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.024","url":null,"abstract":"<p><strong>Background: </strong>Conventional statistical approaches are not designed to compare highly correlated variables such as low-density lipoprotein cholesterol (LDL-C), non-high density lipoprotein cholesterol (non-HDL-C), and apolipoprotein B (apoB). Discordance analysis was designed to overcome this limitation by creating groups in which the predictions of 2 markers differ.</p><p><strong>Objective: </strong>This systematic review compiled all discordance studies that compare the predictive powers of LDL-C and non-HDL-C vs LDL particle number (LDL P) or apoB as markers of atherosclerotic disease risk to determine which is the most accurate marker of cardiovascular risk.</p><p><strong>Methods: </strong>A PubMed search completed September 30, 2024, identified 15 studies involving 593,354 participants. These studies encompassed diverse populations, and included patients with and without statin therapy. Several variations of discordance analysis were used including median-based, percentile-based, residual-based, and variance-based approaches.</p><p><strong>Results: </strong>ApoB outperformed LDL-C in 9 of 9 studies whereas LDL P was superior to LDL-C in 2 of 3 comparisons. In 1 study, non-HDL-C was superior to apoB, in 1 study apoB and non-HDL-C were equivalent, whereas in 7 studies, apoB, overall, was a significantly more accurate marker of atherosclerotic cardiovascular disease risk than non-HDL-C.</p><p><strong>Conclusion: </strong>Discordance analysis provides robust evidence that apoB is a more accurate marker of cardiovascular risk than either LDL-C or non-HDL-C, notwithstanding these variables are highly intercorrelated. Thus, neither LDL-C nor non-HDL-C are adequate clinical surrogates for apoB. Accordingly, apoB should be the primary measure in clinical care to estimate the cardiovascular risk attributable to the apoB lipoproteins and the adequacy of lipid-lowering therapy to reduce this risk.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667681","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":"Central adiposity contributes to the association between vascular cell adhesion molecule-1 and carotid intima-media thickness in children and adolescents with congenital heart disease.","authors":"Michele Honicky, Silvia Meyer Cardoso, Laura Maria Martin Nascimento, Jennyffer Souza, Alexandra Latini, Isabela de Carlos Back, Yara Maria Franco Moreno","doi":"10.1016/j.jacl.2025.05.022","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.022","url":null,"abstract":"<p><strong>Background: </strong>Children and adolescents with congenital heart disease (CHD) after cardiac procedures are more vulnerable to vascular inflammation due to obesity, a cardiovascular risk factor.</p><p><strong>Objective: </strong>This study aimed to investigate the inflammatory biomarkers associated with carotid intima-media thickness (cIMT) stratified by central adiposity.</p><p><strong>Methods: </strong>Cross-sectional study using data from the Floripa CHild (Congential Heart dIsease and atheroscLerosis in ChilDren and adolescents) Study (2021/2022). Blood pressure, lipid and glucose profiles, anthropometric parameters, and behavioral factors were assessed as risk factors. Central adiposity was defined as waist circumference percentile ≥90th by age and sex. Serum inflammatory biomarkers, including interleukins and adhesion molecules, were measured. cIMT was evaluated using ultrasonography. Multivariate linear regression was applied, and statistical significance was set at P < .05.</p><p><strong>Results: </strong>A total of 118 patients with CHD (median age, 13 years [IQR 10-14] and 50.8% female) were evaluated. The prevalence of central adiposity was 16.1%. Patients with central adiposity had higher high-sensitivity C-reactive protein (P < .001). In the multiple linear regression stratified by central adiposity, vascular cell adhesion molecule-1 was positively associated with cIMT only in patients with central adiposity (0.023).</p><p><strong>Conclusion: </strong>Central adiposity may play an important role in the onset of vascular inflammation and early cardiovascular disease in children and adolescents with CHD.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717989","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, Jian Wang, Zahra Taboun, Adam D McIntyre, Robert A Hegele","doi":"10.1016/j.jacl.2025.05.021","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.021","url":null,"abstract":"<p><strong>Background: </strong>Heterozygous pathogenic variants in PPARG 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).</p><p><strong>Methods: </strong>We used our targeted DNA sequencing panel to screen the PPARG gene in 182 clinically diagnosed MCS patients.</p><p><strong>Results: </strong>We found that 3.3% of MCS patients (6/182) had a heterozygous pathogenic PPARG variant, consistent with a diagnosis of FPLD3. The variants were PPARG 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-03","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":"Neurodegeneration in familial chylomicronemia syndrome.","authors":"Bilal Bashir, Raabya Pasha, Anoushka Kamath, Jian Wang, Rayaz A Malik, Robert A Hegele, Maryam Ferdousi, Handrean Soran","doi":"10.1016/j.jacl.2025.05.023","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.023","url":null,"abstract":"<p><strong>Background and objectives: </strong>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder associated with markedly elevated triglyceride concentration and acute pancreatitis, but neuropathic pain and cognitive dysfunction are also increasingly recognized. This study undertook detailed quantification of somatic and autonomic neuropathy in participants with FCS.</p><p><strong>Methods: </strong>Sixteen individuals with FCS and 16 age and sex-matched controls underwent assessment of the lipid profile, neuropathic symptoms and disability, vibration perception, corneal confocal microscopy (CCM), and cardiac autonomic reflex testing.</p><p><strong>Results: </strong>Age (36.4 [26.5-47.2] vs 36.7 [31.3-46.9] years, P = .7), gender distribution (males 44% [n = 7] vs 50% [n = 8], P = .7), body mass index (23.7 [20.3-27.1] vs 24.7 [22.3-27.2] kg/m², P = .5), and glycosylated hemoglobin (36.0 [32.5-39.2] vs 36.8 [33.0-38.0] mmol/mol, P = .9) were comparable between participants with FCS and controls. Triglycerides were significantly higher (23.7 [17.4-34.8] vs 1.0 [0.7-1.3] mmol/L, P < .001), whilst low-density lipoprotein cholesterol (0.9 [0.7-1.2] vs 2.7 [2.3-3.1] mmol/L, P < .001) and high-density lipoprotein cholesterol (0.4 [0.3-0.6] vs 1.5 [1.3-1.9] mmol/L, P < .001) were lower in participants with FCS. The Neuropathy Symptom Profile Score (4 [0-14] vs 0, P = .003), Neuropathy Disability Score (1 [0-3.5] vs 0, P = .01), and vibration perception threshold (6.5 [4.7-8.1] vs 3.0 [2.0-3.5] volts, P < .001) were higher, whilst corneal nerve fiber density (30.2 [27.3-32.3] vs 37.0 [32.5-38.5] no./mm², P < .001), corneal nerve branch density (54.1 [42.0-76.6] vs 100.5 [67.0-147.1] no./mm², P < .001), corneal nerve fiber length (20.0 [18.3-25.5] vs 27.5 [23.9-34.3] mm/mm², P < .001), deep breathing heart rate variability (17.0 [14.2-28.0] vs 29.5 [25.2-34.7] beats/min, P = .002), and expiration to inspiration ratio (1.18 [1.14-1.29] vs 1.36 [1.25-1.41], P = .001) were lower in participants with FCS compared to controls.</p><p><strong>Conclusion: </strong>FCS is associated with neuropathic symptoms, elevated vibration perception, small nerve fiber damage, and cardiac autonomic dysfunction.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lipoprotein X - Pathophysiology, diagnosis, and management.","authors":"Dinesh K Kalra, Matthew Shotwell, Abhimanyu Garg, P Barton Duell, Don P Wilson, Seth S Martin, Daniel E Soffer, Robert S Rosenson, Michael D Shapiro, Zahid Ahmad, James Underberg, Laurence Sperling, Saeed A Jortani, Alan Remaley","doi":"10.1016/j.jacl.2025.05.015","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.015","url":null,"abstract":"<p><strong>Background: </strong>Lipoprotein X (LpX) was first discovered in the 1960s in patients with severe cholestatic diseases as an abnormal lipoprotein that is distinct from other lipoproteins because it is not produced through regulated pathways, contains albumin as the primary protein, and is rich in free cholesterol (FC) and phospholipids. Over the next few decades, its biochemical properties and composition were characterized.</p><p><strong>Sources of material: </strong>Elevated blood levels of LpX are now also known to occur in various other conditions, such as lecithin cholesterol acyltransferase (LCAT) deficiency, graft versus host disease, and after lipid infusions for nutritional support. LpX cannot be measured by conventional testing with a standard lipid panel. The cholesterol content of LpX is included in total cholesterol (TC) and misreported as elevated low-density lipoprotein cholesterol (LDL-C) - this is due to similar densities of LpX and LDL on ultracentrifugation. Typically, the elevations are severe in magnitude, to the extent that the standard lipid panel can look similar to a patient with homozygous familial hypercholesterolemia.</p><p><strong>Abstract of findings: </strong>When LpX is clinically suspected, laboratory testing with measurements of apolipoprotein B, nuclear magnetic resonance (NMR) spectroscopy, lipoprotein gel electrophoresis, or measurement of FC is required to distinguish elevated levels of LpX from other forms of hypercholesterolemia, such as familial hypercholesterolemia. Being an uncommon disorder with an estimated prevalence of 0.02% to 0.09%, if LpX is not considered in the differential diagnosis, the presence of falsely reported levels of elevated LDL-C and low levels of high-density lipoprotein cholesterol (HDL-C) may mimic an atherogenic phenotype, leading to treatment with lipid-lowering therapy (LLT).</p><p><strong>Conclusion: </strong>Rather than atherosclerosis, patients with increased blood LpX levels are at risk of other complications, including hyperviscosity syndrome and xanthomatosis. The usual lipid-lowering drugs do not effectively lower elevated LpX levels; thus, treatment is primarily directed at the underlying disease, with plasma exchange being reserved for hyperviscosity syndrome. This review discusses the biology, pathogenesis, clinical features, diagnosis, and management of elevated LpX levels.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple coronary artery aneurysms in a young patient with Kawasaki disease and heterozygous familial hypercholesterolemia: A case study.","authors":"Julianna West, Amit Khera, Weiyi Tan, Abhimanyu Garg","doi":"10.1016/j.jacl.2025.05.019","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.05.019","url":null,"abstract":"<p><p>Kawasaki disease is an acute febrile systemic vasculitis affecting small and medium-sized arteries that predominately occurs in children and can result in coronary artery aneurysms. The etiology and pathogenesis of Kawasaki disease is unknown. Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes marked elevation in low-density lipoprotein (LDL) cholesterol and coronary atherosclerosis, and rarely coronary artery aneurysms and ectasia. A 20-year-old male presented with an acute ST-elevation myocardial infarction and was found to have coronary artery aneurysms affecting multiple vessels and thrombosis on coronary catheterization consistent with Kawasaki disease. Further investigation showed marked elevation of serum LDL cholesterol and genetic testing revealed a heterozygous pathogenic variant c.621C>T (p.Gly207=; rs121908044) in LDLR confirming FH. Over the next 11 years, despite oral anticoagulation and lipid lowering therapy, he had 3 episodes of myocardial infarction and continued to have angina requiring 2 coronary stents and coronary artery bypass graft surgery. This extremely rare association of multiple coronary artery aneurysms due to Kawasaki disease and heterozygous FH in a young patient has not been reported previously. Management of such patients is challenging and requires aggressive anti-coagulation to prevent coronary aneurysm thrombosis and LDL-cholesterol lowering to prevent atherosclerosis.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564819","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}