Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease. Early diagnosis, as well as prompt and aggressive treatment, are fundam...

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Main Authors: Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Biomedicines
Subjects:
Online Access:https://www.mdpi.com/2227-9059/10/5/1043
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author Francesca Mainieri
Veronica Maria Tagi
Francesco Chiarelli
author_facet Francesca Mainieri
Veronica Maria Tagi
Francesco Chiarelli
author_sort Francesca Mainieri
collection DOAJ
description Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease. Early diagnosis, as well as prompt and aggressive treatment, are fundamental steps to prevent cardiovascular complications and a high rate of premature mortality in children and adolescents. Clinics and genetics are the two main aspects on which diagnosis is based. Widespread screening programs are a respectable option for the early detection of familial hypercholesterolemia. Different types of screening have been proposed so far; however, the optimal screening program has not yet been found. The treatment approach for both heterozygous and homozygous familial hypercholesterolemia in the pediatric population is multidisciplinary, including lifestyle modifications, standard lipid-lowering medications, and novel pharmacological agents. The latter show promising results, especially for patients who experience intolerance to other treatment or present with more severe conditions. Our purpose is to focus on the importance of the early detection of familial hypercholesterolemia, and to highlight the best therapeutic strategies, including the recent approaches based on current clinical evidence, that need to be adopted from the earliest stages of life.
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spelling doaj.art-0d449b224b9c4564889a00e93c6ff9d02023-11-23T10:10:14ZengMDPI AGBiomedicines2227-90592022-04-01105104310.3390/biomedicines10051043Recent Advances on Familial Hypercholesterolemia in Children and AdolescentsFrancesca Mainieri0Veronica Maria Tagi1Francesco Chiarelli2Department of Paediatrics, University of Chieti, 66100 Chieti, ItalyDepartment of Paediatrics, University of Chieti, 66100 Chieti, ItalyDepartment of Paediatrics, University of Chieti, 66100 Chieti, ItalyFamilial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease. Early diagnosis, as well as prompt and aggressive treatment, are fundamental steps to prevent cardiovascular complications and a high rate of premature mortality in children and adolescents. Clinics and genetics are the two main aspects on which diagnosis is based. Widespread screening programs are a respectable option for the early detection of familial hypercholesterolemia. Different types of screening have been proposed so far; however, the optimal screening program has not yet been found. The treatment approach for both heterozygous and homozygous familial hypercholesterolemia in the pediatric population is multidisciplinary, including lifestyle modifications, standard lipid-lowering medications, and novel pharmacological agents. The latter show promising results, especially for patients who experience intolerance to other treatment or present with more severe conditions. Our purpose is to focus on the importance of the early detection of familial hypercholesterolemia, and to highlight the best therapeutic strategies, including the recent approaches based on current clinical evidence, that need to be adopted from the earliest stages of life.https://www.mdpi.com/2227-9059/10/5/1043familial hypercholesterolemiadyslipidemialow-density lipoprotein cholesterolatherosclerotic cardiovascular diseaseatherosclerosistreatment
spellingShingle Francesca Mainieri
Veronica Maria Tagi
Francesco Chiarelli
Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
Biomedicines
familial hypercholesterolemia
dyslipidemia
low-density lipoprotein cholesterol
atherosclerotic cardiovascular disease
atherosclerosis
treatment
title Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
title_full Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
title_fullStr Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
title_full_unstemmed Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
title_short Recent Advances on Familial Hypercholesterolemia in Children and Adolescents
title_sort recent advances on familial hypercholesterolemia in children and adolescents
topic familial hypercholesterolemia
dyslipidemia
low-density lipoprotein cholesterol
atherosclerotic cardiovascular disease
atherosclerosis
treatment
url https://www.mdpi.com/2227-9059/10/5/1043
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