Journal of clinical lipidology最新文献

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Impact of PREVENT-ASCVD vs pooled cohort equations on statin eligibility across demographic groups: Insights from the NIH All of Us Research Program 预防- ascvd与合并队列方程对他汀类药物在人口统计学组中的适用性的影响:来自NIH All of Us研究项目的见解
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-07 DOI: 10.1016/j.jacl.2026.07.003
Cammie Young BA, Frances Golden MD, MPH, Wenjun Fan MD, PhD, Nathan D. Wong PhD, MPH
{"title":"Impact of PREVENT-ASCVD vs pooled cohort equations on statin eligibility across demographic groups: Insights from the NIH All of Us Research Program","authors":"Cammie Young BA,&nbsp;Frances Golden MD, MPH,&nbsp;Wenjun Fan MD, PhD,&nbsp;Nathan D. Wong PhD, MPH","doi":"10.1016/j.jacl.2026.07.003","DOIUrl":"10.1016/j.jacl.2026.07.003","url":null,"abstract":"<div><div>We compared the predicting risk of cardiovascular EVENTS-atherosclerotic cardiovascular disease (PREVENT-ASCVD) risk equation with the pooled cohort equation (PCE) for estimating statin eligibility across demographic subgroups in the All of Us Research Program in patients without ASCVD, heart failure, diabetes, or lipid-lowering therapy. Statin eligibility was defined as a 10-year ASCVD risk for PREVENT-ASCVD ≥5% and PCE ≥7.5%. Eligibility estimates were compared across age, sex, and race/ethnicity, and by quintile of polysocial risk score (PsRS). Among 25,188 participants, overall statin eligibility was 23.1% under PREVENT-ASCVD compared with 28.0% under PCE (Δ = 4.9%, <em>P</em> &lt; 0.001). The largest differences were among participants aged 60 to 69 years and among Black participants. Among those with PsRS data (n = 6213), PREVENT-ASCVD estimated lower statin eligibility than PCE across all quintiles (<em>P</em> &lt; 0.05). Differences in statin eligibility between PREVENT-ASCVD and PCE persist even when applying guideline-recommended thresholds, highlighting the importance of incorporating additional risk-enhancing factors beyond those included in either equation to better inform primary prevention decisions.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 2062-2068"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148620343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lipoprotein(a) and aortic diseases: Epidemiological evidence from observation to causation 脂蛋白(a)与主动脉疾病:从观察到病因的流行病学证据。
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-10 DOI: 10.1016/j.jacl.2026.07.014
Dexiang Xia MD, Lei Zhang MD, PhD, Junjie Fang MD, Wentao Hu MD, Maohua Li PhD, Yunfan Chen MD, Chang Shu MD, PhD, Jiehua Li MD, PhD, Xin Li MD, PhD
{"title":"Lipoprotein(a) and aortic diseases: Epidemiological evidence from observation to causation","authors":"Dexiang Xia MD,&nbsp;Lei Zhang MD, PhD,&nbsp;Junjie Fang MD,&nbsp;Wentao Hu MD,&nbsp;Maohua Li PhD,&nbsp;Yunfan Chen MD,&nbsp;Chang Shu MD, PhD,&nbsp;Jiehua Li MD, PhD,&nbsp;Xin Li MD, PhD","doi":"10.1016/j.jacl.2026.07.014","DOIUrl":"10.1016/j.jacl.2026.07.014","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Aortic aneurysm and dissection (AA/AD) are life-threatening vascular diseases with high mortality, yet no effective drugs to delay progression. Lipoprotein(a) [Lp(a)] is genetically determined and associated with atherosclerotic disease, but high-quality evidence on its causal role in AA/AD remains limited.</div></div><div><h3>OBJECTIVE</h3><div>To investigate the association between Lp(a) and AA/AD and assess potential causal relationships with major aortic disease subtypes.</div></div><div><h3>METHODS</h3><div>A prospective cohort of 312,332 UK Biobank participants was analyzed. Kaplan–Meier curves, Cox regression, and Fine–Gray competing-risk models assessed associations between Lp(a) and incident AA/AD. Two-sample Mendelian randomization (MR) analyses evaluated the potential causal effects of Lp(a) on AA, abdominal aortic aneurysm (AAA), thoracic aortic aneurysm (TAA), and AD.</div></div><div><h3>RESULTS</h3><div>During a median follow-up of 16.5 years, 3122 AA/AD events occurred. Elevated Lp(a) independently predicted AA/AD with a dose–response relationship (hazard ratio [HR] = 1.40 for &gt;180 vs &lt;50 nmol/L; HR = 1.15 per 75 nmol/L increment). Competing-risk analyses yielded consistent results. MR analyses supported a causal association between Lp(a) and AA (odds ratio [OR] = 1.31, 95% CI: 1.08-1.62) and AAA (OR = 1.80, 95% CI: 1.37-2.37), whereas MR analyses did not provide sufficient evidence for causal associations with TAA or AD.</div></div><div><h3>CONCLUSION</h3><div>Lp(a) may serve as a promising biomarker for risk assessment and stratification in aortic disease. However, the MR analysis for AD was limited by low statistical power, and the clinical utility of Lp(a) measurement requires further investigation.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 1978-1987"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148620376","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}
引用次数: 0
Birth and first-year outcomes in infants of mothers with familial hypercholesterolemia or atherosclerotic cardiovascular disease in the US: A retrospective cohort study 美国家族性高胆固醇血症或动脉粥样硬化性心血管疾病母亲的婴儿出生和第一年结局:一项回顾性队列研究
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-31 DOI: 10.1016/j.jacl.2026.07.032
Xinyue Liu PhD, MS, Michelle Fanous DO, Manish Ponda MD, MS, Wenqin Qiang MPH, Liang Ni MPH, Alexander Breskin PhD, Xiaoran Yang PhD, MPH, Isha M. Riley MPH, Caitlin Knox PhD, MPH, FISPE
{"title":"Birth and first-year outcomes in infants of mothers with familial hypercholesterolemia or atherosclerotic cardiovascular disease in the US: A retrospective cohort study","authors":"Xinyue Liu PhD, MS,&nbsp;Michelle Fanous DO,&nbsp;Manish Ponda MD, MS,&nbsp;Wenqin Qiang MPH,&nbsp;Liang Ni MPH,&nbsp;Alexander Breskin PhD,&nbsp;Xiaoran Yang PhD, MPH,&nbsp;Isha M. Riley MPH,&nbsp;Caitlin Knox PhD, MPH, FISPE","doi":"10.1016/j.jacl.2026.07.032","DOIUrl":"10.1016/j.jacl.2026.07.032","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Infant outcomes among those born to mothers with familial hypercholesterolemia (FH) or atherosclerotic cardiovascular disease (ASCVD) remain unclear.</div></div><div><h3>OBJECTIVE</h3><div>To assess outcomes among infants of mothers living with FH or ASCVD in the US.</div></div><div><h3>METHODS</h3><div>In this retrospective claims-based cohort study, mother-infant singleton pairs (2018-2023) were identified. Infants were followed to death, disenrollment, age 1 year, or the end of 2024. Exposure was classified as maternal prepregnancy diagnosis of FH or ASCVD. Outcomes included preterm birth, low birth weight, macrosomia, neonatal intensive care unit (NICU) admission, major congenital malformations (MCM), infant mortality, and healthcare utilization at 1 year of age. Inverse probability treatment weighting was utilized to compare the FH and ASCVD cohorts with a reference cohort, respectively.</div></div><div><h3>RESULTS</h3><div>Among 275 FH, 878 ASCVD, and 348,683 reference mother-infant pairs, the use of maternal lipid-lowering therapies was rare and declined during pregnancy. No increased risks of adverse outcomes were observed for the FH cohort vs the reference cohort. In contrast, the ASCVD cohort had higher risks of preterm birth (adjusted risk ratio, 1.73 [95% CI, 1.40-2.12]), low birth weight (1.77 [1.28-2.46]), NICU admission (1.48 [1.23-1.77]), and noncardiac MCM (1.58 [1.05-2.37]) than the reference cohort. At 1 year of age, the ASCVD cohort also had higher risks of inpatient admissions, emergency department visits, and urgent care clinic visits.</div></div><div><h3>CONCLUSION</h3><div>Infants of mothers living with ASCVD—but not those with FH—had higher risks of adverse birth outcomes and increased healthcare utilization.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 1827-1839"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148706804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methodological considerations in real-world comparative effectiveness research: insights from the BEYOND-REAL study 现实世界比较有效性研究中的方法学考虑:来自BEYOND-REAL研究的见解。
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-08 DOI: 10.1016/j.jacl.2026.06.029
Raechel T. White PharmD, PhC, BCACP, Benedicta O. Ansong PharmD, Kevin Cowart PharmD, MPH, BCACP, CDCES
{"title":"Methodological considerations in real-world comparative effectiveness research: insights from the BEYOND-REAL study","authors":"Raechel T. White PharmD, PhC, BCACP,&nbsp;Benedicta O. Ansong PharmD,&nbsp;Kevin Cowart PharmD, MPH, BCACP, CDCES","doi":"10.1016/j.jacl.2026.06.029","DOIUrl":"10.1016/j.jacl.2026.06.029","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 2087-2088"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549364","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}
引用次数: 0
The return of “goals” in the 2026 ACC/AHA/Multisociety guideline on the management of dyslipidemia 2026年ACC/AHA/多社会血脂异常管理指南中“目标”的回归
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-06-12 DOI: 10.1016/j.jacl.2026.06.006
Zahid Ahmad MD, Abhimanyu Garg MD
{"title":"The return of “goals” in the 2026 ACC/AHA/Multisociety guideline on the management of dyslipidemia","authors":"Zahid Ahmad MD,&nbsp;Abhimanyu Garg MD","doi":"10.1016/j.jacl.2026.06.006","DOIUrl":"10.1016/j.jacl.2026.06.006","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 15-19"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148578773","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}
引用次数: 0
Diagnostic performance of serum sterols, including oxysterols, for identifying cerebrotendinous xanthomatosis and monitoring treatment efficacy 血清甾醇(包括氧化甾醇)在诊断脑腱黄瘤病和监测治疗效果中的诊断价值。
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-06 DOI: 10.1016/j.jacl.2026.06.021
Rieko Sagara PhD, Satoshi Hirayama MD, PhD, Yoshifumi Fukushima MD, PhD, Tsuyoshi Ueno MT, PhD, Naoko Kuwabara PhD, Saori Nakagawa PhD, Hayato Tada MD, PhD, Shingo Koyama MD, PhD, Kazuyuki Noda MD, PhD, Minoru Takemoto MD, PhD, Tomoyo Hashimoto MD, PhD, Yukio Iwanaka MD, Hiroaki Adachi MD, PhD, Yukihito Higashi MD, PhD, Yoshiki Sekijima MD, PhD, Takashi Miida MD, PhD
{"title":"Diagnostic performance of serum sterols, including oxysterols, for identifying cerebrotendinous xanthomatosis and monitoring treatment efficacy","authors":"Rieko Sagara PhD,&nbsp;Satoshi Hirayama MD, PhD,&nbsp;Yoshifumi Fukushima MD, PhD,&nbsp;Tsuyoshi Ueno MT, PhD,&nbsp;Naoko Kuwabara PhD,&nbsp;Saori Nakagawa PhD,&nbsp;Hayato Tada MD, PhD,&nbsp;Shingo Koyama MD, PhD,&nbsp;Kazuyuki Noda MD, PhD,&nbsp;Minoru Takemoto MD, PhD,&nbsp;Tomoyo Hashimoto MD, PhD,&nbsp;Yukio Iwanaka MD,&nbsp;Hiroaki Adachi MD, PhD,&nbsp;Yukihito Higashi MD, PhD,&nbsp;Yoshiki Sekijima MD, PhD,&nbsp;Takashi Miida MD, PhD","doi":"10.1016/j.jacl.2026.06.021","DOIUrl":"10.1016/j.jacl.2026.06.021","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Cerebrotendinous xanthomatosis (CTX) is caused by biallelic mutations in the <em>CYP27A1</em> gene, which encodes sterol 27-hydroxylase. Reduced activity of this enzyme decreases bile acid synthesis and increases cholestanol production. Cholestanol, a metabolic intermediate, can be used as a diagnostic marker; however, patients with CTX have been reported to have normal cholestanol levels. Cholesterol and bile acid metabolism is likely to be extensively disrupted even in these patients with CTX.</div></div><div><h3>OBJECTIVE</h3><div>We aimed to clarify whether sterol markers, including oxysterols, can be used to screen for and diagnose CTX and assess treatment efficacy.</div></div><div><h3>METHODS</h3><div>Fourteen patients with CTX (homozygotes, n <em>= 7</em>; compound heterozygotes, n <em>= 5</em>; unidentified, n <em>=</em> 2)<em>,</em> 6 carriers, and 24 healthy controls were enrolled. We analyzed 9 sterol markers, including 4 oxysterols, using gas chromatography-mass spectrometry. We measured these markers in patients with CTX before and after treatment with chenodeoxycholic acid (CDCA) and/or lipid-lowering agents.</div></div><div><h3>RESULTS</h3><div>Cholestanol and sterol markers of cholesterol synthesis and absorption were 1.3 to 8.3 times higher in patients with CTX than in carriers and controls. These marker levels decreased significantly in patients with CTX after treatment. Compared to carriers and controls, patients with CTX had extremely low levels of 27-hydroxycholesterol (27-OHC) and extremely high levels of 7α-hydroxycholesterol (7α-OHC). During treatment, 7α-OHC levels decreased significantly, while 27-OHC levels remained low. Receiver operating characteristic analysis demonstrated excellent diagnostic performance. The area under the curve was 1.000 for low 27-OHC and 0.991 for elevated 7α-OHC, outperforming cholestanol (0.903).</div></div><div><h3>CONCLUSION</h3><div>Sterol markers, including oxysterols, can be used to screen for and diagnose CTX and to assess treatment efficacy with CDCA and/or lipid-lowering agents.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 1840-1849"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148591745","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}
引用次数: 0
Where we have come from and where we are going in lipid therapeutics 脂质疗法从何而来,又将何去何从
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-09-25 DOI: 10.1016/j.jacl.2026.09.001
Anne Carol Goldberg MD, MNLA, P. Barton Duell MD, MNLA
{"title":"Where we have come from and where we are going in lipid therapeutics","authors":"Anne Carol Goldberg MD, MNLA,&nbsp;P. Barton Duell MD, MNLA","doi":"10.1016/j.jacl.2026.09.001","DOIUrl":"10.1016/j.jacl.2026.09.001","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 1741-1743"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149056562","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}
引用次数: 0
HDL function after PCSK9 inhibition: Assay scope, normalization, and clinical interpretation PCSK9抑制后HDL功能:测定范围、标准化和临床解释
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-09-25 DOI: 10.1016/j.jacl.2026.05.227
Mengna Li, Yongfu Fan MD
{"title":"HDL function after PCSK9 inhibition: Assay scope, normalization, and clinical interpretation","authors":"Mengna Li,&nbsp;Yongfu Fan MD","doi":"10.1016/j.jacl.2026.05.227","DOIUrl":"10.1016/j.jacl.2026.05.227","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 2089-2090"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149056346","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}
引用次数: 0
Imaging guided treatment of subclinical atherosclerosis—We’ve come a long way! 影像引导治疗亚临床动脉粥样硬化——我们已经走了很长的路!
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-06-06 DOI: 10.1016/j.jacl.2026.05.236
Eugenia Gianos MD, Ron Blankstein MD
{"title":"Imaging guided treatment of subclinical atherosclerosis—We’ve come a long way!","authors":"Eugenia Gianos MD,&nbsp;Ron Blankstein MD","doi":"10.1016/j.jacl.2026.05.236","DOIUrl":"10.1016/j.jacl.2026.05.236","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 11-14"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148421277","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}
引用次数: 0
Prevalence and clinical characteristics of probable familial chylomicronaemia syndrome at a tertiary care center in Pakistan: Insights from a hospital-based screening study 巴基斯坦三级保健中心可能的家族性乳糜小贫血综合征的患病率和临床特征:来自医院筛查研究的见解。
IF 6.9 3区 医学
Journal of clinical lipidology Pub Date : 2026-09-01 Epub Date: 2026-07-20 DOI: 10.1016/j.jacl.2026.07.023
Quratul Ain PhD, Naim-ul Huda MBBS, Madeeha Khan MS, Amjad Nawaz MPhil, Zoraiz Ali MBBS, Jaka Sikonja MD, Mohammad Iqbal Khan FRCS, Muhammad Ajmal PhD, Fouzia Sadiq PhD, Urh Groselj PhD
{"title":"Prevalence and clinical characteristics of probable familial chylomicronaemia syndrome at a tertiary care center in Pakistan: Insights from a hospital-based screening study","authors":"Quratul Ain PhD,&nbsp;Naim-ul Huda MBBS,&nbsp;Madeeha Khan MS,&nbsp;Amjad Nawaz MPhil,&nbsp;Zoraiz Ali MBBS,&nbsp;Jaka Sikonja MD,&nbsp;Mohammad Iqbal Khan FRCS,&nbsp;Muhammad Ajmal PhD,&nbsp;Fouzia Sadiq PhD,&nbsp;Urh Groselj PhD","doi":"10.1016/j.jacl.2026.07.023","DOIUrl":"10.1016/j.jacl.2026.07.023","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Familial chylomicronaemia syndrome (FCS) is a rare monogenic disorder characterized by severe hypertriglyceridemia (HTG) and recurrent acute pancreatitis. Despite its significant morbidity, data from South Asian populations remain scarce. This study estimated the prevalence of probable FCS and described its clinical characteristics among individuals undergoing lipid testing at a tertiary care hospital in Pakistan.</div></div><div><h3>METHODS</h3><div>In this retrospective, hospital-based pilot study, electronic health records of individuals undergoing lipid testing were reviewed. Severe HTG was defined as triglycerides &gt;885 mg/dL. The FCS Clinical Score was applied to classify patients as probable FCS, unlikely FCS, and very unlikely FCS (defined as multifactorial chylomicronemia syndrome [MCS]).</div></div><div><h3>RESULTS</h3><div>Among 95,667 individuals, 290 (0.30%) had severe HTG. Of these, 13 (4.5%) were classified as probable FCS, corresponding to a prevalence of 0.014% (14 per 100,000). Compared with MCS, FCS patients were younger (32.0 vs 43.0 years, <em>P</em> &lt; 0.001), had lower BMI (19.2 vs 25.6 kg/m², <em>P</em> &lt; 0.001), earlier symptom onset (15.5 vs 40.0 years, <em>P</em> &lt; 0.001), and more frequent acute pancreatitis (30.8% vs 2.6%, <em>P</em> &lt; 0.001). As genetic testing was not performed, these differences should be interpreted as classification-driven rather than independent findings; nonetheless, they are broadly consistent with reports from genetically confirmed FCS cohorts.</div></div><div><h3>CONCLUSION</h3><div>This study provides the first clinical-score-based estimate of probable FCS in Pakistan. A subgroup of patients with severe HTG exhibited features suggestive of monogenic chylomicronaemia, highlighting the importance of clinical screening in resource-limited settings where genetic testing is unavailable.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"20 9","pages":"Pages 2020-2027"},"PeriodicalIF":6.9,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148648694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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