Journal of Lipid and Atherosclerosis最新文献

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Clinical and Molecular Genetic Risk Factors for Severe Familial Hypercholesterolemia. 严重家族性高胆固醇血症的临床和分子遗传危险因素。
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2026-03-10 DOI: 10.12997/jla.2026.15.2.261
Eun Hoo Rho, Yura Kang, Minjae Yoon, Nak-Hoon Son, Sung Hee Choi, Sang-Hak Lee, Kyong Soo Park, Soo Heon Kwak
{"title":"Clinical and Molecular Genetic Risk Factors for Severe Familial Hypercholesterolemia.","authors":"Eun Hoo Rho, Yura Kang, Minjae Yoon, Nak-Hoon Son, Sung Hee Choi, Sang-Hak Lee, Kyong Soo Park, Soo Heon Kwak","doi":"10.12997/jla.2026.15.2.261","DOIUrl":"10.12997/jla.2026.15.2.261","url":null,"abstract":"<p><strong>Objective: </strong>Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with a markedly elevated, yet heterogeneous, risk of atherosclerotic cardiovascular disease (ASCVD). To improve identification of highest-risk individuals, the International Atherosclerosis Society (IAS) introduced the concept of \"severe FH.\" This study investigated clinical and molecular genetic risk factors associated with severe FH in Korean patients.</p><p><strong>Methods: </strong>Patients enrolled in the Korean FH Registry were analyzed. Severe FH was defined according to IAS criteria, including the presence of ASCVD, subclinical atherosclerosis detected by imaging, or markedly elevated low-density lipoprotein cholesterol levels together with cardiovascular risk factors. FH-associated genes were analyzed using whole-exome sequencing or targeted exome sequencing. Clinical and genetic characteristics were compared between patients with severe and non-severe FH.</p><p><strong>Results: </strong>Among 296 patients, 172 (58%) had severe FH. Compared with patients with non-severe FH, those with severe FH were older, more frequently male, and had higher prevalence of smoking, hypertension, and diabetes mellitus. Triglyceride levels, lipoprotein(a), and high-sensitivity C-reactive protein concentrations were also significantly higher in the severe FH group. Although the frequency of pathogenic or likely pathogenic variants was numerically higher in severe FH patients (38.3% vs. 30.7%), this difference did not reach statistical significance, likely due to limited statistical power (<i>p</i>=0.170).</p><p><strong>Conclusion: </strong>Korean patients with severe FH exhibited distinct clinical characteristics, including older age, male predominance, and a greater burden of cardiometabolic risk factors. However, the presence and type of pathogenic or likely pathogenic variants in FH-associated genes did not differ significantly between severe and non-severe FH groups.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"261-271"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Arterial Tissue Gene Expression Associated With Telomere Length Attrition in Coronary Artery Disease. 冠状动脉疾病中与端粒长度损耗相关的动脉组织基因表达
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2025-10-28 DOI: 10.12997/jla.2026.15.2.297
Zhi Chng Lau, Arshia Naaz, Umamaheswari Muniasamy, Xiao Yun Lim, Resham Lal Gurung, Gokce Oguz, Adaikalavan Ramasamy, Woon-Puay Koh, Vitaly A Sorokin, Rajkumar Dorajoo
{"title":"Arterial Tissue Gene Expression Associated With Telomere Length Attrition in Coronary Artery Disease.","authors":"Zhi Chng Lau, Arshia Naaz, Umamaheswari Muniasamy, Xiao Yun Lim, Resham Lal Gurung, Gokce Oguz, Adaikalavan Ramasamy, Woon-Puay Koh, Vitaly A Sorokin, Rajkumar Dorajoo","doi":"10.12997/jla.2026.15.2.297","DOIUrl":"10.12997/jla.2026.15.2.297","url":null,"abstract":"<p><strong>Objective: </strong>Shortened telomere length (TL) in blood cells has been associated with atherosclerotic coronary artery disease (CAD). However, the mechanistic pathways underlying TL attrition in arterial wall tissues of patients with CAD remain unclear.</p><p><strong>Methods: </strong>TL was measured using quantitative polymerase chain reaction in blood granulocytes and matched arterial wall tissues from 155 Chinese men with CAD. RNA sequencing was performed in 34 patients to profile the arterial wall tissue transcriptome. These patients were dichotomized according to the median TL of either arterial wall tissues or granulocytes, and differential gene expression was examined with respect to TL.</p><p><strong>Results: </strong>No significant correlation was observed between TLs of arterial wall tissues and granulocytes (R=0.107, <i>p</i>=0.19). We identified 10 significant differentially expressed genes (DEGs) associated with TL attrition in arterial wall tissues (false discovery rate [FDR] <0.045), including upregulation of <i>ADRA2A</i> (FDR=0.043), a gene encoding an adrenergic receptor implicated in vasoconstriction of atherosclerotic coronary arteries. Gene-set enrichment analysis also revealed positive enrichment of the vasoconstriction pathway (FDR=0.012) in association with TL attrition at the arterial wall tissue. However, these 10 DEGs were not associated with TL attrition in granulocytes. Instead, TL attrition in granulocytes was linked to negative enrichment of ATP synthesis pathways, potentially reflecting mitochondrial dysfunction.</p><p><strong>Conclusion: </strong>Our findings suggest that distinct pathway dysfunctions may underlie TL attrition in atherosclerotic arterial walls versus granulocytes, indicating that TL attrition in these compartments could contribute to CAD pathogenesis through different mechanisms.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"297-307"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sex Differences in the Diagnosis and Treatment of Japanese Patients With Familial Hypercholesterolemia: A Retrospective Cohort Study. 日本家族性高胆固醇血症患者诊断和治疗的性别差异:一项回顾性队列研究。
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2026-02-04 DOI: 10.12997/jla.2026.15.2.308
Hayato Tada, Nobuko Kojima, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamura
{"title":"Sex Differences in the Diagnosis and Treatment of Japanese Patients With Familial Hypercholesterolemia: A Retrospective Cohort Study.","authors":"Hayato Tada, Nobuko Kojima, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamura","doi":"10.12997/jla.2026.15.2.308","DOIUrl":"10.12997/jla.2026.15.2.308","url":null,"abstract":"<p><strong>Objective: </strong>Significant sex differences have been observed in the diagnosis and treatment of familial hypercholesterolemia (FH). This study aimed to clarify sex differences among Japanese FH patients.</p><p><strong>Methods: </strong>We assessed Japanese patients who had been clinically diagnosed with heterozygous FH (HeFH) at our hospital from 1990 to 2022 (n=1,273). We compared variables that were associated with the diagnosis and treatment of HeFH and the attainment rate of low-density lipoprotein (LDL)-cholesterol treatment target between male and female patients. We used the Cox proportional hazards model to assess factors associated with major adverse cardiac events (MACEs) between male and female sexes.</p><p><strong>Results: </strong>Female patients diagnosed with HeFH were significantly older than male patients (51 vs. 46 years, <i>p</i><0.001). The median follow-up period was 10.9 years. Compared with female patients, male patients had significantly lower median LDL-cholesterol levels at baseline (236 vs. 244 mg/dL, <i>p</i><0.001) and follow-up (110 vs. 116 mg/dL, <i>p</i><0.001). Female patients with HeFH were less likely to achieve the LDL-cholesterol treatment target than male patients (22% vs. 34%, <i>p</i><0.001). During the follow-up period, 142 MACEs were observed. Male sex was significantly associated with MACEs (hazard ratio, 1.64; 95% confidence interval, 1.14-2.14; <i>p</i><0.001). Factors associated with MACEs did not significantly differ between male and female.</p><p><strong>Conclusion: </strong>Female patients with HeFH were diagnosed 5 years later than male patients. Moreover, they were less likely to achieve the guideline-recommended LDL-cholesterol level targets. This sex bias represents a significant barrier to clinical care.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"308-316"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment Initiation and Modification Among Patients Diagnosed With Dyslipidemia: Prevalence and Associated Factors. 诊断为血脂异常的患者的治疗开始和修改:患病率和相关因素。
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2025-10-28 DOI: 10.12997/jla.2026.15.2.286
Chanadda Wuttikul, Paridawan Kaew-Umpa, Aliya Kosumphant, Pathitta Jitranon, Ranchida Kunuphathum, Piranee Kaewbut
{"title":"Treatment Initiation and Modification Among Patients Diagnosed With Dyslipidemia: Prevalence and Associated Factors.","authors":"Chanadda Wuttikul, Paridawan Kaew-Umpa, Aliya Kosumphant, Pathitta Jitranon, Ranchida Kunuphathum, Piranee Kaewbut","doi":"10.12997/jla.2026.15.2.286","DOIUrl":"10.12997/jla.2026.15.2.286","url":null,"abstract":"<p><strong>Objective: </strong>Physician inertia is a critical factor in the management of uncontrolled noncommunicable diseases. This study aimed to determine the prevalence of physician inertia and the associated factors among patients with dyslipidemia.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted using electronic medical records of dyslipidemia patients who received outpatient services in a northern Thailand hospital between January 1, 2021, and December 31, 2021. Physician inertia was defined as the absence of treatment intensification despite patients not achieving the target low-density lipoprotein cholesterol level. The criteria for physician inertia were based on the 2019 European Society of Cardiology guideline. Logistic regression analysis was applied to identify factors associated with physician inertia.</p><p><strong>Results: </strong>A total of 841 dyslipidemia patients who attended the outpatient department were included. The prevalence of physician inertia was 82.0%. Significant factors associated with physician inertia were female gender (adjusted odds ratio [OR], 1.54; 95% confidence interval [CI], 1.06-2.23), enrollment in the Civil Servant Medical Benefit Scheme (adjusted OR, 1.58; 95% CI, 1.06-2.37), hypertension (adjusted OR, 2.56; 95% CI, 1.69-3.87), and atherosclerotic cardiovascular disease (ASCVD) (adjusted OR, 2.75; 95% CI, 1.64-4.60).</p><p><strong>Conclusion: </strong>The prevalence of physician inertia in patients with dyslipidemia was 82.0%. Female gender, universal coverage scheme, hypertension, and ASCVD were significantly associated with physician inertia. Identifying contributors to physician inertia and developing interventions to address them may improve healthcare delivery and patient outcomes.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"286-296"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment Target Discovery From Vasculo-Protective Phenotypes. 从血管保护表型发现治疗靶点。
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2025-10-28 DOI: 10.12997/jla.2026.15.2.240
Sang-Hak Lee
{"title":"Treatment Target Discovery From Vasculo-Protective Phenotypes.","authors":"Sang-Hak Lee","doi":"10.12997/jla.2026.15.2.240","DOIUrl":"10.12997/jla.2026.15.2.240","url":null,"abstract":"<p><p>With advances in genetic studies and bioinformatic analysis techniques, treatment target discovery and drug development focusing on specific genes and proteins are rapidly increasing. For instance, studies of populations with protective lipid profiles have led to the identification of novel therapeutic targets and subsequent drug development. Meanwhile, high-density lipoprotein-dependent centripetal cholesterol transport has been steadily investigated by atherosclerosis researchers. Recently, an association between hepatic Cdkal1 deficiency and increased centripetal cholesterol transport was reported. Additional treatment targets and drug developments are anticipated through genetic analyses of diverse populations exhibiting vasculo-protective phenotypes.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"240-248"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multidisciplinary Rescue for a Lethal Triad: Severe Hypertriglyceridemia, Necrotizing Pancreatitis, and Abdominal Compartment Syndrome in Pregnancy. 多学科抢救致命的三位一体:严重高甘油三酯血症,坏死性胰腺炎,和腹部隔室综合征在妊娠。
Journal of Lipid and Atherosclerosis Pub Date : 2026-05-01 Epub Date: 2025-12-03 DOI: 10.12997/jla.2026.15.2.374
Ebru Kaya, Aylin Parmaksiz, Aslı Sevim Yildiz, Gülseren Yilmaz, Ali Osman Balkan, Bedih Balkan
{"title":"Multidisciplinary Rescue for a Lethal Triad: Severe Hypertriglyceridemia, Necrotizing Pancreatitis, and Abdominal Compartment Syndrome in Pregnancy.","authors":"Ebru Kaya, Aylin Parmaksiz, Aslı Sevim Yildiz, Gülseren Yilmaz, Ali Osman Balkan, Bedih Balkan","doi":"10.12997/jla.2026.15.2.374","DOIUrl":"10.12997/jla.2026.15.2.374","url":null,"abstract":"<p><strong>Objective: </strong>We report the multidisciplinary management of a life-threatening triad in a 30-year-old primigravida: severe hypertriglyceridemia (14,230 mg/dL) complicated by necrotizing pancreatitis, subsequent abdominal compartment syndrome, and multiorgan failure.</p><p><strong>Case report: </strong>A primigravida at 38 weeks of gestation presented with epigastric pain, vomiting, and fever. Laboratory findings revealed marked hypertriglyceridemia (14,230 mg/dL) and elevated pancreatic enzymes (amylase 3,630 U/L, lipase 6,084 U/L), with imaging confirming necrotizing pancreatitis. An emergency cesarean section was performed for maternal stabilization, resulting in the delivery of a viable neonate. Postoperatively, the patient developed respiratory failure requiring intubation and abdominal compartment syndrome necessitating laparotomy, during which 4,000 mL of necrotic fluid was drained. With intensive multidisciplinary management, maternal stabilization was achieved after eight days in the intensive care unit, and neonatal outcomes were favorable.</p><p><strong>Conclusion: </strong>This case highlights that severe hypertriglyceridemia during pregnancy can precipitate life-threatening maternal complications and jeopardize fetal well-being. Early multidisciplinary management, including prompt delivery when indicated and aggressive maternal support (e.g., plasmapheresis), is essential for optimizing perinatal outcomes.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 2","pages":"374-380"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atherosclerosis Progression in Native Coronaries After Coronary Artery Bypass Grafting: A State-of-the-Art Review. 冠状动脉搭桥术后原生冠状动脉粥样硬化进展:最新进展综述。
Journal of Lipid and Atherosclerosis Pub Date : 2026-01-01 Epub Date: 2025-08-08 DOI: 10.12997/jla.2026.15.1.57
Hesham Salah El-Din Taha, Omar Younis, Mirna Mamdouh
{"title":"Atherosclerosis Progression in Native Coronaries After Coronary Artery Bypass Grafting: A State-of-the-Art Review.","authors":"Hesham Salah El-Din Taha, Omar Younis, Mirna Mamdouh","doi":"10.12997/jla.2026.15.1.57","DOIUrl":"10.12997/jla.2026.15.1.57","url":null,"abstract":"<p><p>Coronary artery bypass grafting (CABG) is the standard-of-care surgical treatment for patients with advanced coronary artery disease, particularly those with triple-vessel or left main coronary artery involvement. Over the years, refinements in surgical technique have led to higher success rates and improved outcomes. However, the rapid progression of atherosclerosis in native coronary arteries following CABG remains a persistent concern. Although several studies have documented this phenomenon, the exact pathophysiological processes involved are not yet fully understood. Additionally, the options for further treatment in these patients continue to pose challenges for physicians. In this review, we discuss various studies that have evaluated this phenomenon and its clinical implications, along with the proposed underlying mechanisms. Potential strategies for managing atherosclerosis following CABG are also explored.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 1","pages":"57-71"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12875070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146142683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Lipid-Lowering Drug Use and Sarcopenia: Analysis of the Korea National Health and Nutrition Examination Survey. 降脂药物使用与肌肉减少症之间的关系:韩国国家健康和营养检查调查分析。
Journal of Lipid and Atherosclerosis Pub Date : 2026-01-01 Epub Date: 2025-08-14 DOI: 10.12997/jla.2026.15.1.151
Ah-Reum Shin, Keun-Gyu Park, Sung-Woo Kim
{"title":"Association Between Lipid-Lowering Drug Use and Sarcopenia: Analysis of the Korea National Health and Nutrition Examination Survey.","authors":"Ah-Reum Shin, Keun-Gyu Park, Sung-Woo Kim","doi":"10.12997/jla.2026.15.1.151","DOIUrl":"10.12997/jla.2026.15.1.151","url":null,"abstract":"<p><strong>Objective: </strong>Lipid-lowering drugs are known to cause various muscle-related side effects; however, it remains unclear whether their use contributes to reduced muscle mass and sarcopenia. This study aimed to evaluate the association between the use of lipid-lowering drugs and both muscle mass and the prevalence of sarcopenia.</p><p><strong>Methods: </strong>We conducted a cross-sectional analysis using data from 18,668 adults aged ≥20 years from the Korea National Health and Nutrition Examination Survey 2008-2011. Sarcopenia was defined based on appendicular skeletal muscle mass (ASM), measured using dual-energy X-ray absorptiometry. The association between hyperlipidemia medication and the prevalence of sarcopenia was estimated using complex samples logistic regression.</p><p><strong>Results: </strong>Patients with hyperlipidemia exhibited lower ASM/wt than those without hyperlipidemia. After adjusting for potential confounders, including current lipid profiles, ASM/wt did not differ significantly between the general population and hyperlipidemic patients not receiving medication. However, individuals taking lipid-lowering drugs demonstrated significantly lower ASM/wt. This trend was mirrored in sarcopenia prevalence, with odds ratios of 2.89 (95% confidence interval [CI], 1.95-4.28) in men and 1.68 (95% CI, 1.26-2.24) in women (<i>p</i><0.01 for both). Notably, only participants on lipid-lowering drugs showed a progressive decline in ASM/wt and an increased risk of sarcopenia with longer duration of hyperlipidemia.</p><p><strong>Conclusion: </strong>These results suggest that the use of lipid-lowering drugs may contribute to a decrease in muscle mass and a higher risk of sarcopenia. However, the generalizability of these results is limited, and further longitudinal studies are required to confirm the association.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 1","pages":"151-160"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12875073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146142708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency. 两种不同的PCSK9抑制剂成功治疗糖原储存病IXd患者的高胆固醇血症:磷酸化酶激酶缺乏症
Journal of Lipid and Atherosclerosis Pub Date : 2026-01-01 Epub Date: 2025-11-10 DOI: 10.12997/jla.2026.15.1.183
Tiffany Huynh, Hien Nguyen, Michelle Nguyen
{"title":"Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.","authors":"Tiffany Huynh, Hien Nguyen, Michelle Nguyen","doi":"10.12997/jla.2026.15.1.183","DOIUrl":"10.12997/jla.2026.15.1.183","url":null,"abstract":"<p><strong>Objective: </strong>This case report describes a novel use of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors in a patient whose glycogen storage disease (GSD) was unmasked by statin therapy. Evidence-based guidelines for the management of hyperlipidemia in patients with concurrent neuromuscular disorders (NMD) remain limited.</p><p><strong>Methods: </strong>We report the case of a 46-year-old man with hyperlipidemia, treated with simvastatin, who presented with 2 days of thigh pain without weakness or dark urine. He was diagnosed with statin-associated muscle symptoms. On further interview, the patient recalled experiencing thigh muscle soreness decades earlier while in the military, at which time his creatine phosphokinase (CPK) ranged between 1,200 and 3,000 U/L. He admitted not disclosing this history or a prior muscle biopsy.</p><p><strong>Results: </strong>Muscle biopsy and electromyography/nerve conduction velocity studies were followed by whole-exome sequencing, which demonstrated hemizygosity for c.2369+1 G>T, a pathogenic variant in the <i>PHKA1</i> gene, consistent with GSD IXd. He was subsequently treated with 2 PCSK9 inhibitors (first evolocumab, then alirocumab). A comprehensive literature review identified only 2 previously reported cases of GSD treated with alirocumab.</p><p><strong>Conclusion: </strong>Even if not volunteered, a history of muscle symptoms should be actively sought before initiating statins, with baseline CPK measurement if indicated. As statins are increasingly prescribed, additional cases of GSD may be unmasked, underscoring the need to define optimal therapy for hyperlipidemia in NMD, including GSD. We propose a specific role for PCSK9 inhibitors in patients with statin intolerance and GSD IXd, which has not been previously reported.</p>","PeriodicalId":16284,"journal":{"name":"Journal of Lipid and Atherosclerosis","volume":"15 1","pages":"183-192"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12875081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146142816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of Statin Intolerance in a Primary Care Portuguese Population: A Retrospective Cohort Study. 葡萄牙初级保健人群中他汀类药物不耐受的患病率:一项回顾性队列研究。
Journal of Lipid and Atherosclerosis Pub Date : 2026-01-01 Epub Date: 2025-08-08 DOI: 10.12997/jla.2026.15.1.138
Cristina Gavina, Francisco Araújo, Ana Rita Luz, Cristina Jácome, Jorge A Ruivo, Carla Teixeira
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