Pedro-Botet, Juan CarlosCliment Biescas, ElisendaBenaiges Foix, David2022-05-192022-05-192021Pedro-Botet J, Climent E, Benaiges D. Familial hypercholesterolemia: do HDL play a role? Biomedicines. 2021 Jul 13; 9(7): 810. DOI: 10.3390/biomedicines90708102227-9059http://hdl.handle.net/10230/53163Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects.application/pdfengCopyright © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).info:eu-repo/semantics/articlehttp://dx.doi.org/10.3390/biomedicines9070810HDL functionalityCardiovascular diseaseEpigeneticsFamilial hypercholesterolemiaGeneticsHigh density lipoproteinsinfo:eu-repo/semantics/openAccess