Search results for "familial hypercholesterolemia"

Lipoprotein-associated phospholipase A2 activity is increased in patients with definite familial hypercholesterolemia compared with other forms of hy…

2018

Background and Aim: Lipoprotein-associated phospholipase A2(Lp-PLA2) plays a key role in atherosclerosis development. It is considered a marker of increased risk of cardiovascular disease (CVD) and plaque vulnerability. Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol and a higher prevalence of early CVD. Our aim was to evaluate the differences in Lp-PLA2activity in a population of hypercholesterolemic patients with and without definite FH. Methods and Results: Hypercholesterolemic patients were consecutively recruited. Definite FH was defined according to Dutch Lipid Clinic Network criteria ≥8. All pat…

Two-generation cardiovascular disease prevalence in familial hypercholesterolemia

2016

New Lipid Modulating Drugs: The Role of Microsomal Transport Protein Inhibitors

2011

Microsomal triglyceride transfer protein (MTP) is involved in the synthesis of very low density lipoprotein in the liver. Its deficiency results in abetalipoproteinemia. MTP inhibitors target the assembly and secretion of apolipoprotein B-containing lipoproteins. These agents may potentially play a role, alone or in combination, in the treatment of hypercholesterolemia or hypertriglyceridemia. Clinical applications of MTP inhibitors initially focused primarily on high-dose monotherapy in order to produce substantial reductions in LDL-cholesterol levels but these proved to induce significant hepatic steatosis and transaminase elevations. However, likely orphan indications for MTP inhibitors,…

Bempedoic acid as adjunct for traditional lipid-lowering therapy in patients with hyperlipidaemia

2020

Statin therapy has been the cornerstone for the reduction of cholesterol and circulating low-density lipoprotein (LDL) in patients with cardiovascular diseases. However, statin monotherapy has disadvantages attributable to myopathies and to the insufficient cholesterol reduction observed in some patients. There is a need for new well-tolerated therapies for lowering LDL. This review will focus on bempedoic acid in combination with traditional statin therapy or other lipid-lowering agents and its emerging role in LDL-C lowering. Bempedoic acid is also a viable alternative for reducing LDL cholesterol in the treatment of some patients suffering from heterozygous familial hypercholesterolemia.

Effects of PCSK9 inhibitors on HDL cholesterol efflux and serum cholesterol loading capacity in familial hypercholesterolemia subjects: a multi-lipid…

2022

Proprotein convertase subtilisin/kexin type 9 (PCSK9), beyond regulating LDL cholesterol (LDL-c) plasma levels, exerts several pleiotropic effects by modulating lipid metabolism in extrahepatic cells such as macrophages. Macrophage cholesterol homeostasis depends on serum lipoprotein functions, including the HDL capacity to promote cell cholesterol efflux (CEC) and the serum capacity to promote cell cholesterol loading (CLC). The aim of this observational study was to investigate the effect of PCSK9 inhibitors (PCSK9-i) treatment on HDL-CEC and serum CLC in patients with familial hypercholesterolemia (FH). 31 genetically confirmed FH patients were recruited. Blood was collected and serum is…

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

2023

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …

0132: Identifying familial hypercholesterolemia from registries of patients with acute myocardial infarction: an algorithm-based approach

2016

Background and aims Familial hypercholesterolemia (FH) is at very high risk of early myocardial infarction (MI). The prevalence of FH, which is estimated to be at least 1:500 in the general population, remains unclear in patients with acute MI. From databases of 2 French regional and nationwide registries of acute MI (RICO and FAST-MI, respectively), we aimed to determine FH prevalence by developing a specific algorithm. Methods and results Consecutive patients with AMI ≤48 hours of onset included 1) in FAST-MI: during a one-month period in 213 institutions at the end of 2005 and 2) in RICO: from January 2001 December 2013 (≈13y), were considered in the 2 databases. The algorithm was adapte…

Chemokine axes and inflammatory status in Metabolic Syndrome. Effect of PCSK9 inhibitors in the systemic inflammation associated to Familial Hypercho…

2019

Metabolic syndrome (MS) is a metabolic disorder characterized by a cluster of cardiovascular risk factors and its prevalence remains increasing in Western world. It is associated to low-grade systemic inflammation, a key driver of premature atherosclerosis and the major cause of cardiovascular disease (CVD). Given that CXCL16/CXCR6, CX3CL1/CX3CR1 and CCL2/CCR2 axes have been implicated in the development of CVD, we investigated the role of these axes in leukocyte adhesion to the dysfunctional arterial endothelium in a MS model. We also performed a comprehensive analysis of different cellular and soluble immune players in patients with MS. When compared with the controls, MS patients present…

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

2016

Familial hypercholesterolemia (FH) is the most common and serious form of inherited hyperlipidaemia. Dominantly inherited with high penetrance, untreated FH leads to premature death from coronary artery disease due to accelerated atherosclerosis from birth. Despite its importance, there is still a major shortfall in awareness, detection and treatment of FH worldwide. International models of care for FH have recently been published, but their effective implementation requires the garnering of more knowledge about the condition. The “Ten Countries Study” aims to investigate diagnostic, epidemiological and service aspects, as well as physician practices and patient experiences of FH in several…

The effects of ezetimibe on LDL-cholesterol: quantitative or qualitative changes ?

2009

Ezetimibe represents the first of a new class of agents, the cholesterol absorption inhibitors, able to reduce low-density lipoproteins (LDL)-cholesterol by 15-25% from baseline in monotherapy and on top of statins and fibrates. To-date all the data regarding the efficacy of ezetimibe comes from the studies of its lipid-lowering power. Yet, recent findings from the ENHANCE study on atherosclerosis progression showed that the addition of ezetimibe to simvastatin in patients with heterozygous familial hypercholesterolemia did not affect the mean change in carotid intima-media thickness, although a significant reduction in LDL-cholesterol levels was present. Therefore, we cannot exclude that e…