Advances in diagnosis and treatment of familial hypercholesterolemia.
10.12122/j.issn.1673-4254.2023.01.22
- Author:
Hua ZHENG
1
;
Si Jie JIANG
1
;
Li Long LIN
1
Author Information
1. Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
- Publication Type:Journal Article
- Keywords:
familial hypercholesterolemia;
gene detection;
low density lipoprotein receptor
- MeSH:
Humans;
Hyperlipoproteinemia Type II/therapy*;
Coronary Artery Disease;
Lipoproteins, LDL;
Mutation
- From:
Journal of Southern Medical University
2023;43(1):153-156
- CountryChina
- Language:Chinese
-
Abstract:
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by abnormal lipoprotein metabolism. Patients with FH have a significantly increased risk of coronary artery disease (CAD) due to long-term exposure to high levels of low-density lipoprotein (LDL). The diagnosis of FH relies heavily on gene detection, and examination of LDL receptor (LDLR) function is of great significance in its treatment. This review summarizes the current advances in the screening, diagnosis, and treatment of FH and functional analysis of LDLR gene mutations.
