Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in vari...

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Main Authors: FENG Siqin, TANG Muyun, WU Wei, ZHANG Shuyang
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2023-01-01
Series:罕见病研究
Subjects:
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.002
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author FENG Siqin
TANG Muyun
WU Wei
ZHANG Shuyang
author_facet FENG Siqin
TANG Muyun
WU Wei
ZHANG Shuyang
author_sort FENG Siqin
collection DOAJ
description Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.
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spelling doaj.art-9cb427d0892b412d95f616019b8f66df2024-01-02T06:05:35ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-01-012161610.12376/j.issn.2097-0501.2023.01.002Familial HypercholesterolemiaFENG SiqinTANG MuyunWU WeiZHANG ShuyangFamilial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.002familial hypercholesterolemialow-density lipoprotein cholesterolproprotein convertase subtilisin/kexin type 9 inhibitors
spellingShingle FENG Siqin
TANG Muyun
WU Wei
ZHANG Shuyang
Familial Hypercholesterolemia
罕见病研究
familial hypercholesterolemia
low-density lipoprotein cholesterol
proprotein convertase subtilisin/kexin type 9 inhibitors
title Familial Hypercholesterolemia
title_full Familial Hypercholesterolemia
title_fullStr Familial Hypercholesterolemia
title_full_unstemmed Familial Hypercholesterolemia
title_short Familial Hypercholesterolemia
title_sort familial hypercholesterolemia
topic familial hypercholesterolemia
low-density lipoprotein cholesterol
proprotein convertase subtilisin/kexin type 9 inhibitors
url https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.002
work_keys_str_mv AT fengsiqin familialhypercholesterolemia
AT tangmuyun familialhypercholesterolemia
AT wuwei familialhypercholesterolemia
AT zhangshuyang familialhypercholesterolemia