Cascade Screening of a Pakistani Consanguineous Familial Hypercholesterolemia Cohort: Identification of Seven New Homozygous Patients

Atherosclerosis, Год журнала: 2025, Номер unknown, С. 119118 - 119118

Опубликована: Фев. 1, 2025

Язык: Английский

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Hypercholesterolemia and inflammation—Cooperative cardiovascular risk factors

European Journal of Clinical Investigation, Год журнала: 2024, Номер unknown

Опубликована: Окт. 6, 2024

Abstract Background Maintaining low concentrations of plasma low‐density lipoprotein cholesterol (LDLc) over time decreases the number LDL particles trapped within artery wall, slows progression atherosclerosis and delays age at which mature atherosclerotic plaques develop. This substantially reduces lifetime risk cardiovascular disease (ASCVD) events. In this context, plaque development vulnerability result not only from lipid accumulation but also inflammation. Results Changes in composition immune cells, including macrophages, dendritic T B mast cells neutrophils, along with altered cytokine chemokine release, disrupt equilibrium between inflammation anti‐inflammatory mechanisms sites. Considering that it is a competition LDLc inflammation, instead they are partners crime, present narrative review aims to give an overview main inflammatory molecular pathways linked raised describe impact lipid‐lowering approaches on burden. Although remarkable changes driven by most recent lowering combinations, relative reduction C‐reactive protein appears be independent magnitude lowering. Conclusion Identifying clinical biomarkers (e.g. interleukin‐6) possible targets for therapy holds promise monitoring reducing ASCVD burden suitable patients.

Язык: Английский

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Calcific Aortic Stenosis

JAMA, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 11, 2024

Calcific aortic stenosis (AS) restricts the valve opening during systole due to calcification and fibrosis of either a congenital bicuspid or normal trileaflet valve. In US, AS affects 1% 2% adults older than 65 years approximately 12% 75 years. Worldwide, leads more 100 000 deaths annually.

Язык: Английский

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Lipid Lowering Therapy Utilization and Lipid Goal Attainment in Women

Current Atherosclerosis Reports, Год журнала: 2025, Номер 27(1)

Опубликована: Янв. 28, 2025

Abstract Purpose of Review The purpose this review is to provide an overview the current status lipid-lowering therapy utilization and lipid goal attainment in women. We focus on individuals with without established atherosclerotic cardiovascular disease, as well familial hypercholesterolemia. Additionally, aims explore underlying mechanisms driving these sex differences identify existing knowledge gaps area. Recent Findings Despite proven efficacy both sexes, real-world studies indicate that women comparable risk profiles are less likely than men receive treatments. Furthermore, who prescribed statins typically lower-intensity regimens achieve guideline-recommended low-density lipoprotein cholesterol goals. Summary advancements therapies, compared men, systematically undertreated. This difference influenced by patient-related, physician-related, societal factors. Graphical

Язык: Английский

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Familial hypercholesterolemia with alt elevation: a case report

Endocrinology&Metabolism International Journal, Год журнала: 2025, Номер 13(1), С. 24 - 26

Опубликована: Янв. 1, 2025

Familial hypercholesterolemia (FH) is a hereditary condition associated with elevated cardiovascular risk, primarily due to increased LDL levels from young age. In some cases, total cholesterol and triglycerides are also elevated. This case highlights the variable onset of FH within family, liver enzymes during statin therapy, need for more aggressive treatment approach. Treatment included dose adjustments statins addition ezetimibe, close monitoring adverse events. Personalized management essential, balancing control hyperlipidemia reduce risk against potential enzyme elevation therapy.

Язык: Английский

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Sex‐Based Disparities in Index Cases of Familial Hypercholesterolemia in Vietnam: A Cross‐Sectional Study

Health Science Reports, Год журнала: 2025, Номер 8(3)

Опубликована: Март 1, 2025

ABSTRACT Background and Aims Familial hypercholesterolemia (FH) is a substantial contributor to the development of atherosclerotic cardiovascular disease. Therefore, primary focus our study was examine sex‐based disparities in clinical signs, status, lipid profiles, treatment intensity among patients with FH from Vietnam. Methods This retrospective cross‐sectional report analyzed profiles 110 Vietnam Hypercholesterolemia (VINAFH) registry. Results Among these patients, 47 (42.7%) were females, 48 (43.6%) had mutant FH. Women diagnosed at significantly later age than men. However, smoking signs suggestive observed more frequently males females. Male exhibited higher prevalence premature coronary artery disease No significant differences plasma total cholesterol low‐density lipoprotein (LDL‐C) levels between sexes. In males, areas under curve (AUC) for LDL‐C 0.83, cut‐off value 6.11 mmol/L (sensitivity, 79.4%; specificity, 89.7%). AUC 0.72, 6.9 57.1%; 93.9%). Statins prescribed most (93.6%), proportion men women receiving high‐intensity statin therapy. Conclusion Our findings suggested that Vietnam, women, whereas are likely smoke have Treatment female lower male despite prescription.

Язык: Английский

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Real-world Family Planning and Pregnancy Practices in Women with Homozygous Familial Hypercholesterolemia

Atherosclerosis, Год журнала: 2025, Номер 404, С. 119187 - 119187

Опубликована: Апрель 5, 2025

Homozygous familial hypercholesterolemia (HoFH) is characterized by extremely high plasma low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerotic cardiovascular disease risk. During pregnancy LDL-C increase, while limited therapeutic options are available. This international study documented current approaches of healthcare professionals (HCPs) to family planning, pregnancy, breastfeeding in HoFH. An online HCP survey was distributed among the HoFH International Clinical Collaborators (HICC, NCT04815005). Responses were analyzed according HCPs' gender, medical specialty, country income status, world region. In total, 87 HCPs (39.1 % women) from 48 countries participated (64.4 practicing high-income countries). Most (79.3 %) always discuss planning with patients (72.4 recommend contraception, intrauterine devices (50.8 oral contraceptives (49.2 being most commonly recommended. One three would advise against if ASCVD risks deemed too high. Except for apheresis colesevelam, discontinuing LLT during conception, periods. However, approximately 30 continuation or reinitiation statins and/or ezetimibe despite labelled restrictions on use breastfeeding. Nearly half (48.3 that women shorten period resume earlier, significantly more likely do so (51.8 vs. 41.9 %; p = 0.008). highlights significant variability management childbearing age, especially concerning The findings underscore need further research establish global evidence-based guidelines tailored individual needs, improve risk reproductive health outcomes worldwide.

Язык: Английский

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Lipoprotein Metabolism, Dyslipidemia, and Lipid-Lowering Therapy in Women: A Comprehensive Review

Pharmaceuticals, Год журнала: 2024, Номер 17(7), С. 913 - 913

Опубликована: Июль 9, 2024

Lipid-lowering therapy (LLT) is a cornerstone of atherosclerotic cardiovascular disease prevention. Although LLT might lead to different reductions in low-density lipoprotein cholesterol (LDL-C) levels women and men, diminishes risk equally effectively both sexes. Despite similar efficacy, the use high-intensity statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors lower compared men. Women achieve guideline-recommended LDL-C less often than Greater burden particularly prominent with familial hypercholesterolemia. In clinical practice, men dyslipidemia present profiles manifestations. The concentrations LDL-C, lipoprotein(a), other blood lipids differ between over lifetime. Dissimilar target molecules partially result from sex-specific hormonal genetic determinants metabolism. Hence, evaluate potential need for LLT, this comprehensive review (i) describes impact sex on metabolism lipid profile, (ii) highlights differences among patients dyslipidemia, (iii) presents recent, up-to-date trial real-world data efficacy safety women, (iv) discusses diverse medical needs increased risk.

Язык: Английский

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A contemporary snapshot of familial hypercholesterolemia registries

Current Opinion in Lipidology, Год журнала: 2024, Номер 35(6), С. 297 - 302

Опубликована: Окт. 7, 2024

Familial hypercholesterolemia (FH) registries can capture unique data on FH concerning real-world practice, clinic epidemiology, natural history, cascade testing, cardiovascular consequences of late diagnosis, and use healthcare resources. Such are also valuable for identifying bridging the gaps between guidelines clinical practice. We reviewed recent findings from principal registries.

Язык: Английский

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Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia

Journal of clinical lipidology, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 1, 2024

Язык: Английский

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