Article
Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.
Journal of clinical lipidology - 1 Jan 2025
Ren Xuanru, Zhang Jun, Wang Luya, Zhang Yuxuan, Li Jialu, Yu Hao, Zheng Zhaohai, Zhang Yiqing, Zeng Hesong, Chen Yan, Wu Junfang
Abstract excerpt
BACKGROUND: Patients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging. METHODS: Here we retrospectively recruited 7 families...
Topics
- Humans
- Phytosterols
- Lipid Metabolism, Inborn Errors
- Male
- Hypercholesterolemia
- Female
- Intestinal Diseases
- Adult
- Hyperlipidemias
- Middle Aged
- ATP Binding Cassette Transporter, Subfamily G, Member 5