Familial hypercholesterolemia in Southeast and East Asia

Familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder associated with a significantly increased risk of coronary heart disease (CHD). Most (~85–90%) cases are due to pathogenic variants in the LDL-receptor gene (LDLR), while the remaining are due to pathogenic variant...

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Main Authors: Candace L. Jackson, Magdi Zordok, Iftikhar J. Kullo
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:American Journal of Preventive Cardiology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S266666772100012X
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author Candace L. Jackson
Magdi Zordok
Iftikhar J. Kullo
author_facet Candace L. Jackson
Magdi Zordok
Iftikhar J. Kullo
author_sort Candace L. Jackson
collection DOAJ
description Familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder associated with a significantly increased risk of coronary heart disease (CHD). Most (~85–90%) cases are due to pathogenic variants in the LDL-receptor gene (LDLR), while the remaining are due to pathogenic variants in the apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, though the proportion may vary depending on geographic location. Even though at least a quarter of the world's FH population lives in Southeast and East Asia, there are substantial gaps in knowledge regarding the epidemiology of FH due to low awareness, the absence of national screening programs, and limited availability of genetic testing. In this review, we discuss the most recent and relevant information available related to diagnostic criteria, prevalence, awareness, clinical characteristics, genetic epidemiology, and treatment in the FH population of Southeast and East Asia. Increasing awareness and improving the diagnosis and management of FH will reduce the burden of premature CHD in these regions of the world.
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spelling doaj.art-ac86b7f790a845deab7da4956804836f2022-12-21T22:02:55ZengElsevierAmerican Journal of Preventive Cardiology2666-66772021-06-016100157Familial hypercholesterolemia in Southeast and East AsiaCandace L. Jackson0Magdi Zordok1Iftikhar J. Kullo2Department of Medicine, Mayo Clinic, Rochester, MN USADepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN USADepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN USA; Corresponding author.Familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder associated with a significantly increased risk of coronary heart disease (CHD). Most (~85–90%) cases are due to pathogenic variants in the LDL-receptor gene (LDLR), while the remaining are due to pathogenic variants in the apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, though the proportion may vary depending on geographic location. Even though at least a quarter of the world's FH population lives in Southeast and East Asia, there are substantial gaps in knowledge regarding the epidemiology of FH due to low awareness, the absence of national screening programs, and limited availability of genetic testing. In this review, we discuss the most recent and relevant information available related to diagnostic criteria, prevalence, awareness, clinical characteristics, genetic epidemiology, and treatment in the FH population of Southeast and East Asia. Increasing awareness and improving the diagnosis and management of FH will reduce the burden of premature CHD in these regions of the world.http://www.sciencedirect.com/science/article/pii/S266666772100012XFamilial hypercholesterolemiaSoutheast AsiaEast AsiaGenetic testingAwarenessPrevalence
spellingShingle Candace L. Jackson
Magdi Zordok
Iftikhar J. Kullo
Familial hypercholesterolemia in Southeast and East Asia
American Journal of Preventive Cardiology
Familial hypercholesterolemia
Southeast Asia
East Asia
Genetic testing
Awareness
Prevalence
title Familial hypercholesterolemia in Southeast and East Asia
title_full Familial hypercholesterolemia in Southeast and East Asia
title_fullStr Familial hypercholesterolemia in Southeast and East Asia
title_full_unstemmed Familial hypercholesterolemia in Southeast and East Asia
title_short Familial hypercholesterolemia in Southeast and East Asia
title_sort familial hypercholesterolemia in southeast and east asia
topic Familial hypercholesterolemia
Southeast Asia
East Asia
Genetic testing
Awareness
Prevalence
url http://www.sciencedirect.com/science/article/pii/S266666772100012X
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AT magdizordok familialhypercholesterolemiainsoutheastandeastasia
AT iftikharjkullo familialhypercholesterolemiainsoutheastandeastasia