Journal of clinical lipidology最新文献

{"title":"Impact of fatty acid desaturase 1 (FADS1) on chronic kidney disease via very low-density lipoprotein: A drug target-related mediation Mendelian randomization study.","authors":"Yongdi Zuo, Lei Chen, Manrong He, Jingxue Du, Wanxin Tang","doi":"10.1016/j.jacl.2025.06.024","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.06.024","url":null,"abstract":"<p><strong>Background: </strong>Chronic kidney disease (CKD) is a globally prevalent condition and still lacks effective specific medications. Metabolic dysregulation plays a crucial role in CKD.</p><p><strong>Objective: </strong>To Identify new potential targets for CKD through metabolites and their regulatory genes.</p><p><strong>Methods: </strong>A total of 233 metabolites from the GWAS Catalog were utilized for Mendelian randomization (MR) with CKD. External validation was conducted from UK Biobank. Cis-eQTL of genes related to very low-density lipoprotein (VLDL) were selected for MR with CKD and metabolites. The total effect of the fatty acid desaturase 1 gene (FADS1) on CKD and metabolite-mediated effects were calculated. Bulk RNA-seq were used to validate FADS1 expression in the kidney tissues of patients with CKD.</p><p><strong>Results: </strong>The cholesteryl esters to total lipids ratio in medium VLDL (odds ratio [OR] = 0.84; P.adj = .039) and total cholesterol to total lipids ratio in small VLDL (OR = 0.84; P.adj = .003) were protective factors for CKD, whereas the triglycerides to total lipids ratio in small VLDL (OR = 1.18; P.adj = .009) and the triglycerides to total lipids ratio in very small VLDL (OR = 1.1; P.adj < .001) were risk factors. They mediated the risk of CKD by FADS1 (OR = 1.1; P.adj = .001), and mediation effects of 21.17%, 10.43%, 23.52%, and 29.96%, respectively, were obtained. The differential expression of FADS1 was observed in the kidney tissues of patients with CKD.</p><p><strong>Conclusion: </strong>FADS1 is a risk factor for CKD and a novel therapeutic target. Four metabolites mediate the detrimental effect of FADS1 in CKD.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144742224","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":"Erratum to “Scientific Poster Abstracts Selected for the National Lipid Association 2025 Scientific Sessions, May 29 – June 1, 2025, Miami, Florida” [Journal of Clinical Lipidology, Volume 19 (2025), Issue 3, Supplemental, May-June, 2025, e1-e128]","authors":"","doi":"10.1016/j.jacl.2025.06.001","DOIUrl":"10.1016/j.jacl.2025.06.001","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1185-1196"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144917111","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 analysis of the breakpoint of large rearrangements of LDLR gene in a Taiwanese cohort of patients with familial hypercholesterolemia","authors":"Chin-Chou Huang MD, PhD ,&nbsp;Min-Ji Charng MD, PhD","doi":"10.1016/j.jacl.2025.04.188","DOIUrl":"10.1016/j.jacl.2025.04.188","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism. Large rearrangements such as deletions or duplications of 1 or more exons are estimated to comprise around 5% of mutations in <em>LDLR</em> genes causing FH. Patients with large rearrangement of <em>LDLR</em> often present more severe phenotypes, warranting early detection and intensive lipid lowering treatment. This study aimed to characterize the large rearrangements of <em>LDLR</em> gene in Taiwanese FH patients.</div></div><div><h3>METHODS</h3><div>In the Taiwan FH registry, large deletions and duplications of the <em>LDLR</em> gene were screened using multiplex ligation-dependent probe amplification (MLPA) analysis. Precise genomic breakpoints and recombination mechanisms of the large rearrangements were analyzed using polymerase chain reaction and sequencing.</div></div><div><h3>RESULTS</h3><div>From January 2017 to June 2024, abnormal MLPA results were detected in 17 probands. Ten large <em>LDLR</em> rearrangements were identified in 12 probands, including 1 duplication and 9 deletions. Six rearrangements were attributed to nonallelic homologous recombination (NAHR), while 4 were nonhomologous end joining (NHEJ). The precise <em>LDLR</em> breakpoint could not be determined in 1 proband with exon 1-6 duplication. The remaining 4 probands with abnormal MLPA patterns were determined as false positives, possibly due to the interference of single nucleotide polymorphisms (SNPs) near the 3′ end binding site of the MLPA probe.</div></div><div><h3>CONCLUSIONS</h3><div>Ten novel <em>LDLR</em> large rearrangements were identified in the Taiwan FH registry. The presence of SNPs near the 3′ end binding site of the MLPA probe may cause abnormal results, highlighting the importance of precise diagnostic strategies for detecting <em>LDLR</em> large rearrangements.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1064-1072"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995909","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":"Prevention of acute systemic reaction during LDL apheresis post COVID-19 by icatibant pretreatment","authors":"Lauren R. Davidson MD ,&nbsp;Naz Baecher MD ,&nbsp;Brian Cheung MD ,&nbsp;Scott McIntosh MD ,&nbsp;Theresa A. Bingemann MD ,&nbsp;Robert C. Block MD","doi":"10.1016/j.jacl.2025.03.008","DOIUrl":"10.1016/j.jacl.2025.03.008","url":null,"abstract":"<div><div><span><span><span>Lipoprotein apheresis is used as a treatment to lower levels of low-density lipoprotein cholesterol (LDL-C) in patients with familial hypercholesterolemia when LDL-C is not adequately controlled on maximally tolerated medications. Although it raises circulating levels of bradykinin, it is generally well tolerated and systemic reactions to </span>lipoprotein apheresis are rare. Icatibant treats bradykinin-induced </span>angioedema. We describe the first documented case of angioedema-like systemic reactions occurring post COVID-19 in a patient who previously tolerated lipoprotein apheresis and the prevention of such reactions with </span>icatibant. Knowledge of successful treatment of severe bradykinin-induced reactions to lipoprotein apheresis with icatibant may help other patients with such reactions.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1153-1157"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142600","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 MRCP ,&nbsp;Raabya Pasha MPharm ,&nbsp;Anoushka Kamath MSc ,&nbsp;Jian Wang MD ,&nbsp;Rayaz A. Malik PhD ,&nbsp;Robert A. Hegele MD ,&nbsp;Maryam Ferdousi PhD ,&nbsp;Handrean Soran MD","doi":"10.1016/j.jacl.2025.05.023","DOIUrl":"10.1016/j.jacl.2025.05.023","url":null,"abstract":"<div><h3>BACKGROUND AND OBJECTIVES</h3><div>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.</div></div><div><h3>METHODS</h3><div>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.</div></div><div><h3>RESULTS</h3><div>Age (36.4 [26.5-47.2] vs 36.7 [31.3-46.9] years, <em>P</em> = .7), gender distribution (males 44% [n = 7] vs 50% [n = 8], <em>P</em> = .7), body mass index (23.7 [20.3-27.1] vs 24.7 [22.3-27.2] kg/m², <em>P</em> = .5), and glycosylated hemoglobin (36.0 [32.5-39.2] vs 36.8 [33.0-38.0] mmol/mol, <em>P</em> = .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, <em>P</em> &lt; .001), whilst low-density lipoprotein cholesterol (0.9 [0.7-1.2] vs 2.7 [2.3-3.1] mmol/L, <em>P</em> &lt; .001) and high-density lipoprotein cholesterol (0.4 [0.3-0.6] vs 1.5 [1.3-1.9] mmol/L, <em>P</em> &lt; .001) were lower in participants with FCS. The Neuropathy Symptom Profile Score (4 [0-14] vs 0, <em>P</em> = .003), Neuropathy Disability Score (1 [0-3.5] vs 0, <em>P</em> = .01), and vibration perception threshold (6.5 [4.7-8.1] vs 3.0 [2.0-3.5] volts, <em>P</em> &lt; .001) were higher, whilst corneal nerve fiber density (30.2 [27.3-32.3] vs 37.0 [32.5-38.5] no./mm², <em>P</em> &lt; .001), corneal nerve branch density (54.1 [42.0-76.6] vs 100.5 [67.0-147.1] no./mm², <em>P</em> &lt; .001), corneal nerve fiber length (20.0 [18.3-25.5] vs 27.5 [23.9-34.3] mm/mm², <em>P</em> &lt; .001), deep breathing heart rate variability (17.0 [14.2-28.0] vs 29.5 [25.2-34.7] beats/min, <em>P</em> = .002), and expiration to inspiration ratio (1.18 [1.14-1.29] vs 1.36 [1.25-1.41], <em>P</em> = .001) were lower in participants with FCS compared to controls.</div></div><div><h3>CONCLUSION</h3><div>FCS is associated with neuropathic symptoms, elevated vibration perception, small nerve fiber damage, and cardiac autonomic dysfunction.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1119-1128"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","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":"Patients’ and families’ virtual care experiences for hypercholesterolemia management during the COVID-19 pandemic","authors":"Nita Chahal PhD ,&nbsp;Arnelle Lardizabal HBSc ,&nbsp;Janet Rush PhD ,&nbsp;Christian Delayun MSc ,&nbsp;Rayan Rahman BSc ,&nbsp;Rita Nobile MSc ,&nbsp;Brian W. McCrindle MD","doi":"10.1016/j.jacl.2025.06.013","DOIUrl":"10.1016/j.jacl.2025.06.013","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Virtual care (VC) in an ambulatory pediatric lipid clinic was rapidly implemented in response to the COVID-19 pandemic, prompting health evaluation and to inform future care planning.</div></div><div><h3>OBJECTIVE</h3><div>To assess the impact of VC by analyzing longitudinal changes in lipid profiles and exploring patients’ and parents’ experiences through surveys and interviews.</div></div><div><h3>METHODS</h3><div>A descriptive, mixed-methods approach examined lipid biomarkers from patients who attended both in-person and VC appointments at a pediatric hospital in Toronto, Canada from 2020 to 2024. This included a retrospective chart review, postpandemic parent survey, and semi-structured interviews. Generalized estimating equations (GEE) were used to model repeated non-high-density lipoprotein (non-HDL) cholesterol levels over time, examining associations with the number of VC visits. The Six-Pillar Framework for VC guided the interview development and qualitative content analysis.</div></div><div><h3>RESULTS</h3><div>Among the 150 patients (mean age 11 years, SD = 3; 49% female), the trajectory of non-HDL cholesterol levels over time did not significantly differ between those with &gt;3 VC visits and those with fewer visits. However, suboptimal lifestyle behavior patterns were associated with higher non-HDL cholesterol levels. Qualitative data (9 patients, 10 parents) revealed 4 themes: (1) convenient but less effective, (2) managing physical and psychosocial health, (3) situational acceptance, and 4) participant recommendations.</div></div><div><h3>CONCLUSIONS</h3><div>While VC visit frequency alone was not associated with significant changes in non-HDL cholesterol over time, lifestyle factors remained important predictors of lipid outcomes. Recommendations suggested the importance of considering factors such as families’ knowledge, privacy, availability of technology, and internet accessibility when planning VC.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 969-981"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667721","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":"Improvement of retinal microvascular function after initiation of lipid-lowering therapy with PCSK9 inhibitors - An observational study","authors":"Matthias P. Nägele MD,&nbsp;Yannik Raemy MD,&nbsp;Leonie Kreysing MD,&nbsp;Jens Barthelmes MD,&nbsp;Frank Ruschitzka MD,&nbsp;Andreas J. Flammer MD,&nbsp;Isabella Sudano MD, PhD","doi":"10.1016/j.jacl.2025.03.006","DOIUrl":"10.1016/j.jacl.2025.03.006","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Hypercholesterolemia is associated with endothelial dysfunction. While good evidence exists for the beneficial endothelial effects of statins, less is known on the new class of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.</div></div><div><h3>OBJECTIVE</h3><div>The goal of this study was to study the effects of PCSK9 inhibitors on markers of micro- and macrovascular endothelial function and arterial stiffness.</div></div><div><h3>METHODS</h3><div>In this prospective observational study, cardiovascular high-risk patients were measured for retinal microvascular function, brachial artery flow-mediated dilatation (FMD), and arterial stiffness (pulse wave velocity [PWV]; augmentation index [AI]) at baseline and after 3 and 12 months of PCSK9 inhibitor therapy. The primary endpoint was the change in flicker-induced dilatation of retinal arterioles (FID_art) after 12 months compared to baseline.</div></div><div><h3>RESULTS</h3><div>The final study cohort included 42 patients (mean age 56 ± 12 years; 74% male; 76% coronary artery disease). Low-density lipoprotein (LDL) cholesterol was reduced from 3.8 ± 1.2 to 1.8 ± 0.9 mmol/L after 12 months. Retinal microvascular function (FID_art 2.6% ± 1.6% at baseline vs 3.4% ± 2.3% after 12 months, <em>p</em> = .01) and AI (24% ± 9% at baseline vs 21% ± 12% after 12 months, <em>p</em> = .03) improved significantly on PCSK9 inhibitor therapy. No significant changes were observed for FMD, PWV, and other retinal vascular measurements.</div></div><div><h3>CONCLUSION</h3><div>In cardiovascular high-risk patients, PCSK9 inhibition is associated with an improvement of retinal flicker-induced dilatation and AI, thereby linking LDL lowering with improvement of microvascular function.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 982-989"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017034","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":"Is Tangier disease a rare cause of premature ovarian insufficiency?: A case report","authors":"Afruz Babayeva MD ,&nbsp;Ethem Turgay Cerit MD ,&nbsp;Gulsum Kayhan MD ,&nbsp;Arda Inan MD ,&nbsp;Mujde Akturk MD","doi":"10.1016/j.jacl.2025.03.011","DOIUrl":"10.1016/j.jacl.2025.03.011","url":null,"abstract":"<div><div><span>Tangier disease<span> (TD) is a rare inherited disorder of lipoprotein metabolism<span>, characterized by the accumulation of cholesterol esters in various tissues, resulting from a marked deficiency or absence of high-density lipoproteins (HDL). There is limited information in the literature regarding the impact of TD on reproduction. We present the case of a 34-year-old female patient who was diagnosed with TD 9 years ago with extremely low concentrations of HDL cholesterol (0.7 mg/dL), low-density lipoprotein cholesterol (5 mg/dL) and apolipoprotein A1 (0.02 mg/dL). Genetic analysis revealed a homozygous c.4218delC (p.Asn1406Lysfs*95) pathogenic variant in the </span></span></span><em>ABCA1</em><span> gene causing TD. She presented with a mild clinical course that included gastrointestinal involvement and mild thrombocytopenia. Despite being clinically stable for a long time, the patient, who desired to become pregnant, was diagnosed with premature ovarian insufficiency according to the hormone profile (follicle stimulating hormone: 58.7 mIU/mL, luteinizing hormone: 37.1 mIU/mL, estradiol: 34.8 pg/mL, anti-Mullerian hormone: 0.08 ng/mL) after experiencing amennorrhea during follow-up.</span></div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1158-1163"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017036","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 experience with lomitapide treatment in patients with homozygous familial hypercholesterolemia: Over 10 years of efficacy and safety data","authors":"Marcello Arca MD ,&nbsp;Laura D'Erasmo MD, PhD ,&nbsp;Marina Cuchel MD, PhD ,&nbsp;Dirk J. Blom MBChB, PhD ,&nbsp;Jaimini Cegla FRCP, FRCPath, PhD ,&nbsp;P. Barton Duell MD ,&nbsp;Raul D. Santos MD ,&nbsp;Sallyann O'Brien PhD","doi":"10.1016/j.jacl.2025.03.015","DOIUrl":"10.1016/j.jacl.2025.03.015","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by loss of low-density lipoprotein receptor (LDLR) function, an extreme elevation of circulating low-density lipoprotein cholesterol (LDL-C) from birth and substantially reduced life expectancy, if untreated. Patients with HoFH are frequently diagnosed late and have a markedly elevated risk of premature atherosclerotic cardiovascular disease (ASCVD).</div></div><div><h3>SOURCES OF MATERIAL</h3><div>The current European Atherosclerosis Society consensus statement on the treatment of HoFH recommends an LDL-C goal of &lt;55 mg/dL for adults with ASCVD or major ASCVD risk factors, &lt;70 mg/dL for adults without ASCVD risk factors, and &lt;115 mg/dL for pediatric patients without ASCVD. However, achieving these targets is challenging, necessitating treatment with multiple lipid-lowering therapies in combination, including statins, ezetimibe, and other treatments such as lipoprotein apheresis, proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i), lomitapide, and evinacumab.</div></div><div><h3>ABSTRACT OF FINDINGS</h3><div>Lomitapide is a small molecule inhibitor of microsomal triglyceride transfer protein. As lomitapide reduces the production of apolipoprotein B-containing lipoproteins, its mechanism of action is independent of LDLR. The present review summarizes the available evidence regarding the use of lomitapide for the treatment of patients with HoFH.</div></div><div><h3>CONCLUSIONS</h3><div>Over the last decade, numerous clinical trials, real-world evidence studies, and case studies/series have investigated the LDL-C-lowering efficacy/effectiveness and safety of lomitapide. Lomitapide is an effective treatment option for lowering LDL-C in patients with HoFH who are refractory to LDLR-dependent therapies, such as statins, ezetimibe, and PCSK9i.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 775-789"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266281","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":"Real life evidence of volanesorsen for familial chylomicronemia syndrome in Colombia","authors":"Alejandro Román-González MD ,&nbsp;Alejandro Castellanos MD ,&nbsp;Diego Perdomo MD ,&nbsp;Christian Colón MD ,&nbsp;Juan Jose Vargas MD ,&nbsp;Carlos O. Mendivil MD ,&nbsp;Johnayro Gutierrez MD","doi":"10.1016/j.jacl.2025.04.203","DOIUrl":"10.1016/j.jacl.2025.04.203","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Familial chylomicronemia syndrome (FCS) is an ultra-rare disorder associated with pathogenic variants in genes implicated in chylomicron metabolism such as <em>LPL, APOA5, APOC2, GPIHBP1,</em> and <em>LMF1</em>. Patients with FCS have severe hypertriglyceridemia complicated with recurrent episodes of pancreatitis. Volanesorsen is a treatment option for such patients. However, this treatment is not approved or available in all countries.</div></div><div><h3>OBJECTIVE</h3><div>To present the real-life evidence of clinical response to volanesorsen in patients with FCS in Colombia.</div></div><div><h3>METHODS</h3><div>All patients treated with volanesorsen in Colombia as of June 25, 2024, were included<del>.</del> After informed consent, relevant clinical and laboratory data were obtained through review of clinical charts and records from the volanesorsen patient support program.</div></div><div><h3>RESULTS</h3><div>Ten patients with FCS and treated with volanesorsen were included. Most cases were caused by variants in <em>LPL</em>. A total of 90% of cases had at least 1 episode of pancreatis, the mean number of pancreatitis episodes was 5. Median follow-up was 56.5 weeks (IQR 38.3-82.3). The median highest plasma triglyceride (TG) level before treatment was 3111 mg/dL (IQR 1738-3810), while the median lowest TG level after treatment was 493 mg/dL (IQR 147-812). The mean percent decreases in plasma TG at months 1, 3, 6, and 12 were 53.6%, 59.7%, 51.5%, and 40.5%, respectively. There were no new pancreatitis episodes after initiation of volanesorsen treatment. Side effects were consistent with those reported in clinical trials.</div></div><div><h3>CONCLUSION</h3><div>Real-life data of volanesorsen treatment for FCS in Colombia demonstrate efficacy and safety similar to pivotal clinical trials.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1101-1108"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248079","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}