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Genetic Diagnosis of Familial Hypercholesterolemia in Asia
Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200–500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and geneti...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393677/ https://www.ncbi.nlm.nih.gov/pubmed/32793292 http://dx.doi.org/10.3389/fgene.2020.00833 |
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author | Huang, Chin-Chou Charng, Min-Ji |
author_facet | Huang, Chin-Chou Charng, Min-Ji |
author_sort | Huang, Chin-Chou |
collection | PubMed |
description | Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200–500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and genetic testing, more genetic mutations have been detected, including those in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and so on. Globally, most FH patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was a Global Call to Action by the Global Familial Hypercholesterolemia Community to reduce the health burden of FH. Asia, despite being the most populous continent with half of the global population, has low FH detection rates compared to Western countries. Therefore, we aimed to review the current status of FH genetic diagnosis in Asia to understand the gaps in FH diagnosis and management in this region. |
format | Online Article Text |
id | pubmed-7393677 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73936772020-08-12 Genetic Diagnosis of Familial Hypercholesterolemia in Asia Huang, Chin-Chou Charng, Min-Ji Front Genet Genetics Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200–500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and genetic testing, more genetic mutations have been detected, including those in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and so on. Globally, most FH patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was a Global Call to Action by the Global Familial Hypercholesterolemia Community to reduce the health burden of FH. Asia, despite being the most populous continent with half of the global population, has low FH detection rates compared to Western countries. Therefore, we aimed to review the current status of FH genetic diagnosis in Asia to understand the gaps in FH diagnosis and management in this region. Frontiers Media S.A. 2020-07-24 /pmc/articles/PMC7393677/ /pubmed/32793292 http://dx.doi.org/10.3389/fgene.2020.00833 Text en Copyright © 2020 Huang and Charng. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Huang, Chin-Chou Charng, Min-Ji Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title | Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title_full | Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title_fullStr | Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title_full_unstemmed | Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title_short | Genetic Diagnosis of Familial Hypercholesterolemia in Asia |
title_sort | genetic diagnosis of familial hypercholesterolemia in asia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393677/ https://www.ncbi.nlm.nih.gov/pubmed/32793292 http://dx.doi.org/10.3389/fgene.2020.00833 |
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