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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Format: | Article |
Language: | zho |
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Editorial Office of Journal of Rare Diseases
2023-01-01
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Series: | 罕见病研究 |
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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. |
first_indexed | 2024-03-08T17:54:28Z |
format | Article |
id | doaj.art-9cb427d0892b412d95f616019b8f66df |
institution | Directory Open Access Journal |
issn | 2097-0501 |
language | zho |
last_indexed | 2024-03-08T17:54:28Z |
publishDate | 2023-01-01 |
publisher | Editorial Office of Journal of Rare Diseases |
record_format | Article |
series | 罕见病研究 |
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 |