Journal of clinical lipidology最新文献

{"title":"Triglyceride-glucose index and 28-day all-cause mortality in critically ill obese patients: A MIMIC-IV database analysis","authors":"Wen-qiang Wang BSc,&nbsp;Mei-zhu Chen MSc,&nbsp;Yan-hui Yang BSc","doi":"10.1016/j.jacl.2025.05.005","DOIUrl":"10.1016/j.jacl.2025.05.005","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>The triglyceride-glucose (TyG) index, a surrogate marker of insulin resistance, has been linked to various metabolic disorders. This study aimed to investigate the association between the TyG index and 28-day all-cause mortality in obese critically ill patients.</div></div><div><h3>METHODS</h3><div>This study utilized the Medical Information Mart for Intensive Care IV (MIMIC-IV) database and included adult patients with body mass index ≥30 kg/m² admitted to the intensive care unit (ICU) for the first time. The TyG index was calculated as ln[fasting triglycerides (mg/dL) × fasting glucose (mg/dL)/2]. The relationship between the TyG index and 28-day all-cause mortality was evaluated using Cox proportional hazards models, and restricted cubic splines (RCS) were employed to explore the dose-response relationship. Subgroup analyses were used to confirm the robustness of the results.</div></div><div><h3>RESULTS</h3><div>During a mean ICU stay of 7.22 days, 291 patients (22.79%) experienced 28-day all-cause mortality. Kaplan-Meier analysis revealed a significantly increased mortality risk with higher TyG index quartiles (log-rank <em>P</em> &lt; .001). Multivariable Cox regression showed that each 1-unit increase in the TyG index was associated with a 41% higher mortality risk (hazard ratio [HR] = 1.41, 95% CI: 1.21-1.63). Patients in quartile 4 had a 98% higher risk compared to quartile 1 (HR = 1.98, 95% CI: 1.30-3.02). RCS analysis showed that higher levels of TyG index (&gt;9.25) were associated with an increased risk of 28-day all-cause mortality. Subgroup analyses confirmed consistent associations across age, sex, and comorbidity subgroups.</div></div><div><h3>CONCLUSION</h3><div>The TyG index is significantly associated with 28-day all-cause mortality in obese critically ill patients. A higher TyG index serves as an independent predictor of short-term mortality risk in this population.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 960-968"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317043","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":"LpX and LpZ associated hypercholesterolemia in a patient with primary sclerosing cholangitis – A case report","authors":"Chen Gurevitz MD ,&nbsp;Irina Shalaurova MD, PhD ,&nbsp;Margery A. Connelly PhD, MBA ,&nbsp;Robert S. Rosenson MD","doi":"10.1016/j.jacl.2025.05.009","DOIUrl":"10.1016/j.jacl.2025.05.009","url":null,"abstract":"<div><div><span>This case report highlights the complex interplay between cholestatic liver disease and lipoproteins in a 45-year-old male with primary sclerosing cholangitis who presents with severe hyper-cholesterolemia. Nuclear magnetic resonance lipoprofile revealed marked elevations in </span>lipoprotein X<span> and lipoprotein Z (LpZ), with LpZ being the predominant abnormal lipoprotein. Treatment with evolocumab, a proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibody, effectively reduced LpZ levels, with a consequent decrease in low-density lipoprotein particle concentration. Subsequent treatment with rosuvastatin<span> 5 mg daily further lowered LpZ levels without exacerbating liver dysfunction. This case emphasizes the importance of distinguishing secondary lipoprotein abnormalities from primary hypercholesterolemia in patients with liver disease, in order to guide personalized therapeutic strategies.</span></span></div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1171-1173"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325893","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":"Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort","authors":"Afaf Alsagheir MD ,&nbsp;Ismail A. Abdullah MD ,&nbsp;Mohammed Albitar MD ,&nbsp;Alhanouf Aljaser MD ,&nbsp;Rahaf Alansari MD ,&nbsp;Anas Ali MD ,&nbsp;Maeen Aldamouni MD ,&nbsp;Ziad Alhosainy MD ,&nbsp;Rojina Mohamed MD ,&nbsp;Heba Jaamour MD ,&nbsp;Raghad Alhuthil BHS ,&nbsp;Saad Al-hamoudi MD ,&nbsp;Abdualziz Aldayel MD ,&nbsp;Mohammad Aljumaa MD ,&nbsp;Yara Khamaj MD ,&nbsp;Ali Mcrabi MD ,&nbsp;Meshari Alquayt MD ,&nbsp;Abdullah Al-Ashwal MD","doi":"10.1016/j.jacl.2025.04.185","DOIUrl":"10.1016/j.jacl.2025.04.185","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Homozygous familial hypercholesterolemia (HoFH) is a genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) levels and a significantly increased risk of early-onset cardiovascular disease (CVD) and premature death. This study investigates the clinical features, treatment outcomes, genetic findings, and reverse cascade screening results for HoFH patients.</div></div><div><h3>METHODS</h3><div>A total of 88 HoFH patients from 65 families following at a large referral center between 2010 and 2023 were included. Clinical, genetic, and outcome data were obtained through electronic chart review and phone interviews.</div></div><div><h3>RESULTS</h3><div>Among the 88 patients (45.4% males; median age: 17 years), <em>LDLR</em><span> mutations were identified in 100%. Positive family history and consanguinity were reported in 87.5% and 75% of patients, respectively. Reverse cascade screening led to the identification of 76 additional affected relatives, with a median of 7 individuals per family. Treatment included lifestyle modification, lipid-lowering medications (79.5%), LDL apheresis (29.6%), and liver transplantation (20.5%). As for treatment outcomes, liver transplant showed the most significant LDL-C reduction (83.3% decrease, </span><em>p</em> &lt; .001), followed by lomitapide-based therapy (69.4%, <em>p</em> = .004). Complications included xanthomas (62.5%) and CVD (38.6%), with a mortality rate of 13.6% (median age at death: 16 years), primarily due to cardiovascular events.</div></div><div><h3>CONCLUSION</h3><div>HoFH poses an underrecognized public health challenge in Saudi Arabia, particularly in the context of high consanguinity and founder mutations. Early diagnosis through genetic and reverse cascade screening, along with aggressive management, is essential to improving survival. These findings highlight the urgent need for national screening programs and expanded access to advanced lipid-lowering therapies.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1055-1063"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333159","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 unsolved question of the most optimal combination of lipid-lowering therapies","authors":"Alberto Cordero MD, PhD, FESC ,&nbsp;Armando Oterino MD, PhD ,&nbsp;Miriam Martin-Toro MD ,&nbsp;Rosa Fernandez Olmo MD","doi":"10.1016/j.jacl.2025.04.183","DOIUrl":"10.1016/j.jacl.2025.04.183","url":null,"abstract":"","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1179-1180"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144917110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased prevalence of coronary heart disease among current smokers carrying APOL1 risk variants within the African American population","authors":"Jelena Mustra Rakic PhD ,&nbsp;Clive R. Pullinger PhD ,&nbsp;Erin L. Van Blarigan ScD ,&nbsp;Irina Movsesyan BSc ,&nbsp;Eveline Oestreicher Stock MD ,&nbsp;Mary J. Malloy MD ,&nbsp;John P. Kane MD, PhD","doi":"10.1016/j.jacl.2025.04.189","DOIUrl":"10.1016/j.jacl.2025.04.189","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>The apolipoprotein L1 <em>(APOL1</em>) G1 and G2 gene variants, highly prevalent among the African American population (rare in other racial groups), are linked to increased risk of kidney disease, sepsis, and potentially coronary heart disease (CHD). Their role in tobacco-related CHD remains unclear.</div></div><div><h3>OBJECTIVE</h3><div>To investigate the effect of <em>APOL1</em> risk variants on the association between tobacco smoking and prevalent CHD in African American adults.</div></div><div><h3>METHODS</h3><div>We conducted a cross-sectional study involving 519 African American adults recruited through the University of California San Francisco Lipid Clinic. Using multivariable logistic regression, we assessed the association between tobacco smoking and CHD, overall and with its most severe subtype, myocardial infarction (MI), among all participants and <em>APOL1</em> genotype subgroups.</div></div><div><h3>RESULTS</h3><div>Among participants, 41% were current (14%) or former (27%) smokers, 54% carried <em>APOL1</em> risk variants (1 or 2 alleles), and 28% had CHD, including 16% having MI. Current smokers with <em>APOL1</em> risk variants had 3.3 times higher odds of CHD compared to nonsmokers (95% CI: 1.6, 6.8), with the strongest effect observed in those with 2 risk alleles (odds ratio [OR]: 7.3, CI: 1.1, 48.6) and a substantial effect in carriers of a single risk allele (OR: 3.2, CI: 1.5, 7.2). Among non-carriers, current smoking was not significantly associated with CHD (OR: 1.3). A similar trend was observed for MI. Former smoking was associated with CHD (OR: 2.0), independent of <em>APOL1</em> genotype.</div></div><div><h3>CONCLUSION</h3><div>African American smokers with <em>APOL1</em> G1 and/or G2 risk variants may be at greater risk of CHD; this relationship appears to follow an additive model.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1129-1138"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064126","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":"Estimate and prognosis of patients who are candidates for treatment with eicosapentaenoic acid after an acute coronary syndrome","authors":"Alberto Cordero MD, PhD, FESC ,&nbsp;José R. Gonzalez-Juanatey MD, PhD, FESC, FACC ,&nbsp;Rosa Fernandez Olmo MD ,&nbsp;Leticia Fernandez-Freira MD, PhD ,&nbsp;Sergio Manzano MD, PhD ,&nbsp;Clara Bonanad MD, PhD ,&nbsp;Belén Alvarez-Alvarez MD, PhD ,&nbsp;Gustavo Cortez MD ,&nbsp;Armando Oterino MD, PhD ,&nbsp;Pedro J. Flores Blanco MD ,&nbsp;José M. Castellano MD, PhD ,&nbsp;Deepak L. Bhatt MD, MPH, MBA","doi":"10.1016/j.jacl.2025.04.193","DOIUrl":"10.1016/j.jacl.2025.04.193","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Treatment with icosapent ethyl<span> (IPE) has been shown to reduce the incidence of major adverse cardiovascular events (MACE) in patients at high cardiovascular risk with mildly to moderately elevated triglyceride values (&gt;135 mg/dL) and well-controlled (&lt;100 mg/dL) low-density lipoprotein cholesterol (LDLc). The main objective of this study was to estimate the number of patients eligible for IPE after an acute coronary syndrome (ACS).</span></div></div><div><h3>METHODS</h3><div>Multicenter retrospective study based on ACS registries of patients from 8 hospitals in Spain. Patients with LdLc &lt;100 mg/dL and triglyceride values &gt;135 mg/dL were analyzed as candidates for IPE. The study endpoints were MACE (cardiovascular mortality, ACS, or readmission for heart failure or stroke) and all-cause mortality.</div></div><div><h3>RESULTS</h3><div>A total of 14,483 patients with ACS were included in the registry; the mean (SD) LDLc was 99.8 mg/dL (38.5), and the median value for triglycerides was 120.5 mg/dL (IQR: 90-197 mg/dL). Of this population, 3028 (20.9%) were classified as candidates for IPE. Median follow-up was 1223 days. Candidates for IPE had significantly higher rates of MACE (39.0% vs 33.6%) and mortality (18.4% vs 14.0%). Multivariate analysis identified an independently higher risk for MACE (hazard ratio [HR]: 1.14, 95% CI: 1.05-1.20) and all-cause mortality (HR: 1.10, 95% CI: 1.04-1.26) among candidates for IPE.</div></div><div><h3>CONCLUSIONS</h3><div>Approximately 20% of patients discharged after an ACS could be candidates for IPE, and this subset of patients are at higher risk of MACE or death.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 827-834"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248141","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 PhD ,&nbsp;Hongxia Li MS ,&nbsp;Sydney Smith BS ,&nbsp;Yanzhu Lin PhD ,&nbsp;Yan Q. Chen MD ,&nbsp;Melissa Bellinger BS ,&nbsp;Eugene Y. Zhen PhD ,&nbsp;Thomas P. Beyer PhD ,&nbsp;Robert W. Siegel PhD ,&nbsp;Yuewei Qian PhD ,&nbsp;Giacomo Ruotolo MD ,&nbsp;Robert J. Konrad MD","doi":"10.1016/j.jacl.2025.06.008","DOIUrl":"10.1016/j.jacl.2025.06.008","url":null,"abstract":"<div><h3>BACKGROUND</h3><div><span>Cholesteryl ester </span>transfer protein<span> (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.</span></div></div><div><h3>METHODS</h3><div>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.</div></div><div><h3>RESULTS</h3><div>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.</div></div><div><h3>CONCLUSIONS</h3><div>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.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1073-1084"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","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":"Familial hypercholesterolemia in Sri Lanka: Addressing evidence gaps and paving the road ahead","authors":"Anne Thushara Matthias MBBS, MD, MRCP, FRCP","doi":"10.1016/j.jacl.2025.06.025","DOIUrl":"10.1016/j.jacl.2025.06.025","url":null,"abstract":"<div><div>In recent years, South Asia has witnessed a staggering increase in the rate of cardiovascular (CV) deaths, overburdening healthcare systems in this low- to middle-income region. Dyslipidemia is a major risk factor for cardiovascular disease (CVD). Identifying potential gaps in screening and managing dyslipidemia could help to develop a framework for CVD management in this region. Among dyslipidemias, familial hypercholesterolemia (FH) is a risk factor for premature CVD. Data on FH in Sri Lanka, a South Asian country, are sparse. This report is the first to identify and address problems associated with FH in Sri Lanka. It provides insight into the practices employed within the country and helps assess potential barriers in managing patients with FH.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1145-1147"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707646","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":"Performance of the FIND-FH machine learning algorithm for the identification of individuals with suspected familial hypercholesterolemia","authors":"Spencer V. Carter MD ,&nbsp;Taylor Triana MD, MBA ,&nbsp;Mujeeb Basit MD, MMSc ,&nbsp;Ruth Schneider MSN, APRN, ANP-BC ,&nbsp;Colby R. Ayers MS ,&nbsp;Jessica Moon ,&nbsp;Tanvi Ingle BS ,&nbsp;Lakeisha Cade ,&nbsp;Diane E. MacDougall MS ,&nbsp;George Blike MD, MHCDS ,&nbsp;Zahid Ahmad MD ,&nbsp;Amit Khera MD, MSc","doi":"10.1016/j.jacl.2025.06.009","DOIUrl":"10.1016/j.jacl.2025.06.009","url":null,"abstract":"<div><h3>BACKGROUND</h3><div>Familial hypercholesterolemia (FH) is an inherited cholesterol disorder that is markedly underdiagnosed.</div></div><div><h3>OBJECTIVE</h3><div>This study evaluated the real-world performance of the Find, Identify, Network, Deliver-FH (FIND-FH) score, a novel machine learning algorithm, in identifying individuals with high likelihood of FH.</div></div><div><h3>METHODS</h3><div>The FIND-FH model was applied to electronic health record (EHR) data from UT Southwestern Medical Center. Manual chart review was performed on those deemed high probability of FH (score &gt;0.35) to assess accuracy of FH diagnosis by modified Simon-Broome and Dutch Lipid Clinic Network (DLCN) criteria. Individual characteristics were compared across quintiles of the FIND-FH score. Individuals deemed suitable for FH outreach were identified using predetermined clinical criteria denoting adequate clinical probability of FH.</div></div><div><h3>RESULTS</h3><div>Of the 93,418 individuals in the EHR dataset, the FIND-FH algorithm identified 340 with high probability of FH. These 340 individuals had a mean age of 49.8 years, were 59% male, and had a highest low-density lipoprotein cholesterol (LDL-C) of 168.4 mg/dL (±51.9). A total of 20-32% met modified Simon-Broome or DLCN criteria for at least possible FH based on available EHR data. Several variables differed significantly by FIND-FH score quintile, including Simone-Broome and DLCN probability. In the reviewed cohort, 191 (56%) had enough clinical suspicion for FH to warrant outreach. Among these, 101 (53%) had highest LDL-C &lt;190 mg/dL and would be missed by LDL-C-based FH screening strategies.</div></div><div><h3>CONCLUSION</h3><div>In a large healthcare system EHR cohort, most individuals identified as higher risk for FH by the FIND-FH algorithm were deemed appropriate for further evaluation, despite the majority not meeting FH diagnostic criteria using available EHR data.</div></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"19 4","pages":"Pages 1037-1043"},"PeriodicalIF":4.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768698","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":"Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.","authors":"Gözde Uzunyayla, Fehime Erdem-Karapinar, Esra İşat, Mehmet Şerif Cansever","doi":"10.1016/j.jacl.2025.06.022","DOIUrl":"https://doi.org/10.1016/j.jacl.2025.06.022","url":null,"abstract":"<p><p>Sitosterolemia is a rare autosomal recessive lipid metabolism disorder caused by excessive intestinal absorption and impaired hepatic excretion of plant sterols and cholesterol. The condition caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) gene or the ATP-binding cassette subfamily G member 8 (ABCG8) gene is typically characterized by the presence of xanthomas, early-onset atherosclerosis, and hemolytic anemia. Hematological abnormalities including thrombocytopenia have been reported in patients with sitosterolemia, and may occasionally occur in the absence of dyslipidemia or xanthomas. We present the case of a 6-year-old girl diagnosed with sitosterolemia following the detection of isolated thrombocytopenia during a routine school health screening. Laboratory investigations revealed markedly elevated plasma plant sterol levels; however, dyslipidemia, which is a common feature of this disease, was absent in this case. Although platelet abnormalities have previously been reported in patients with sitosterolemia, the distinguishing feature of this case is the presentation of thrombocytopenia that responded to ezetimibe therapy. The platelet count increased from 58,000/mm³ prior to treatment to 117,000/mm³ following therapy, and further improved to 140,000/mm³ at the most recent follow-up visit. Genetic analysis identified a homozygous pathogenic variant in ABCG5 (c.161G>A, p.Trp54Ter), confirming the diagnosis. This case highlights the significance of thrombocytopenia responsive to ezetimibe as a primary presentation of sitosterolemia, even in the absence of dyslipidemia. In conclusion, it emphasizes the importance of considering sterol metabolism disorders in the differential diagnosis of unexplained thrombocytopenia.</p>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859186","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}