Background: Data on the epidemiology of familial hypercholesterolemia (FH) in developing regions based on contemporary, molecularly defined FH cohorts categorized by sex are scarce.
Objective: Evaluate the differences in cardiovascular disease (CVD) outcomes and lipid-lowering therapy (LLT) between men and women with molecularly defined heterozygous FH participating in a cascade screening program.
Methods: We included 794 adult FH patients (age 47 ± 15 years, 56.
Background: 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).
Sources Of Material: The current European Atherosclerosis Society consensus statement on the treatment of HoFH recommends an LDL-C goal of <55 mg/dL for adults with ASCVD or major ASCVD risk factors, <70 mg/dL for adults without ASCVD risk factors, and <115 mg/dL for pediatric patients without ASCVD.
J Am Coll Cardiol
June 2025
Background: Lipoprotein(a) [Lp(a)] is a common risk factor for atherosclerotic cardiovascular disease, potentially more atherogenic per particle than low-density lipoprotein. An estimated 1.5 billion individuals globally have elevated levels ≥125 nmol/L, considered as a risk-enhancing threshold.
View Article and Find Full Text PDFBackground And Aims: This review examines the physiological functions of Angiopoietin-like proteins (ANGPTLs) in lipid metabolism and the epidemiology of atherosclerotic cardiovascular disease (ASCVD), while discussing their potential as therapies for dyslipidemias.
Methods: A review of contemporary literature on ANGPTLs was conducted.
Results: ANGPTLs comprise eight secreted proteins that share structural similarities with the angiopoietin family and serve as key regulators of various physiological and biochemical functions.
There is striking evidence that a high lipoprotein(a) [Lp(a)] concentration is a strong, independent, and causal cardiovascular risk factor. However, Lp(a) testing rates are very low (1 %-2 %) despite the fact that 1 in 5 individuals have elevated Lp(a) concentrations. The Brussels International Declaration on Lp(a) Testing and Management was co-created by the Lp(a) International Task Force and global leaders at the Lp(a) Global Summit, held in Brussels, Belgium, on March 24-25, 2025.
View Article and Find Full Text PDFEur Heart J
May 2025
Background And Aims: Associations of hyperlipidaemia and inflammation with the risk for incident major adverse cardiovascular events (MACEs) were analysed in individuals with and without cholesterol-lowering medication therapy.
Methods: Data from 322,922 participants (55.9% women) aged 38 to 73 years from the UK Biobank were included.
Background And Aims: Hypertriglyceridemia (HTG) is independently associated with risk of atherosclerotic events, even when LDL-cholesterol levels appear controlled. This INTERASPIRE study determined the frequency of HTG and residual combined dyslipidemia and their related factors in patients with coronary heart disease (CHD) from 13 countries across six World Health Organization (WHO) regions.
Methods: Participants with CHD underwent a standardized study interview and examination, including a centralized analysis of fasting blood samples.
Familial hypercholesterolaemia (FH) is the most common monogenic condition associated with premature atherosclerotic cardiovascular disease. Early detection and initiation of cholesterol lowering therapy combined with lifestyle changes improves the prognosis of patients with FH significantly. The International Atherosclerosis Society (IAS) published a new guidance for implementing best practice in the care of FH.
View Article and Find Full Text PDFBackground: Type 2 diabetes mellitus (T2DM) is a major driver of coronary atherosclerosis progression, yet its impact is highly heterogeneous. Insulin resistance contributes to a complex interplay of metabolic disturbances that accelerate atherogenesis to varying degrees. Identifying biomarkers that refine cardiovascular risk prediction in this population remains a clinical priority.
View Article and Find Full Text PDFBackground And Aims: Low-density lipoprotein-cholesterol (LDL-c) subfractions may play different roles in atherogenesis. Our objective was to evaluate the association between LDL-c subfractions and coronary artery calcium (CAC) incidence in individuals with a baseline CAC = 0 and CAC progression in those with CAC > 0 at baseline.
Methods: We include 2632 participants from the Brazilian Longitudinal Study of Adult Health cohort, all of whom underwent two repeated CAC score measurements and had LDL-c subfraction measurements.
JACC Basic Transl Sci
February 2025
Treatment of familial hypercholesterolemia is directed toward the moment of the medical encounter. However, risk for heart disease as a consequence of having familial hypercholesterolemia is related to lifelong exposure to elevated low-density lipoprotein cholesterol, rather than low-density lipoprotein cholesterol level at a specific time point. The purpose of this review is to reassess contemporary research on treatment of familial hypercholesterolemia and current evidence-based guidelines, to present an approach that emphasizes treatment across the life course, and to recognize the importance of family experiences to care.
View Article and Find Full Text PDFBackground: This study analyzed the cross-sectional association of elevated concentrations of low-density lipoprotein particles (LDLp) and triglyceride-rich lipoprotein particles (TRLp) with carotid artery plaque (CAP) in the ELSA-Brasil cohort.
Methods: Data from 3801 participants (median age: 50.0 years [IQR 44.
Low-density lipoproteins (LDL) comprise a pool of particles with different densities that may have variable impact on atherogenesis. Studies suggest that obese individuals with elevated body mass index (BMI) and waist circumference (WC) have increased small and dense LDL subfractions (sdLDL-c). It is unclear if diabetes (T2D) and insulin resistance (IR) may modify this association.
View Article and Find Full Text PDFBackground And Aims: Elevated low-density lipoprotein-cholesterol (LDL-C) is a modifiable risk factor for dementia, but evidence on other lipids is inconsistent, particularly in studies from low and middle-income countries. This study aimed to assess the association between lipid levels and cognitive decline in the ELSA-Brasil cohort.
Methods: In this prospective study, baseline serum lipid profile [total cholesterol (TC), LDL-C, high-density lipoprotein-cholesterol (HDL-C), triglycerides, and non-high-density lipoprotein-cholesterol (Non-HDL-C)] was analyzed.
Background And Aims: Guidelines focus on individuals with triglycerides between 2.3 and 5.6 mmol/L (200 and 499 mg/dL).
View Article and Find Full Text PDFEur Heart J Open
January 2025
Aims: Heterozygous familial hypercholesterolaemia (HeFH) is one of the most frequent monogenic disorders in the world, leading to premature atherosclerotic cardiovascular diseases. The aim of this meta-analysis was to evaluate the efficacy and safety of lipid-lowering therapy (LLT) and achievement of low density lipoprotein cholesterol (LDL-C) goal in children with HeFH.
Methods And Results: The main endpoint was efficacy of goal achievement for LDL-C and other lipid parameters: total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), apolipoprotein B, and lipoprotein(a), and the LLT safety [adverse events (AEs), including endocrine function, and growth indices].
Am Heart J
June 2025
Background: Translating evidence into clinical practice in the management of established atherosclerotic cardiovascular disease patients is challenging. Few quality improvement interventions have successfully improved patient care.
Objectives: The main objectives are to evaluate the impact of a digitally enabled multifaceted quality improvement (QI) intervention on the control of LDL-cholesterol (LDL-C) in atherosclerotic cardiovascular disease (ASCVD).
Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.
Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.
Background: Individuals with severe hypercholesterolemia (SH) are considered at high atherosclerosis risk and should be intensively treated with lipid-lowering drugs aiming for an LDL-C reduction of≥50% and a goal of <70 mg/dL.
Objectives: This study aimed to evaluate cholesterol control in individuals with SH (LDL-C ≥ 190 mg/dL or 160-189 mg/dL using lipid-lowering drugs) followed in a health evaluation program.
Methods: 55,000 individuals were evaluated, of which 2,214 (4%) had SH, and 1,016 (45.
Since the discovery of statins and the Scandinavian Simvastatin Survival Study (4S) results three decades ago, remarkable advances have been made in the treatment of dyslipidaemia, a major risk factor for atherosclerotic cardiovascular disease. Safe and effective statins remain the cornerstone of therapeutic approach for this indication, including for children with genetic dyslipidaemia, and are one of the most widely prescribed drugs in the world. However, despite the affordability of generic statins, they remain underutilised worldwide.
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