Research progress of phytosterolemia and its laboratory diagnosis
10.3760/cma.j.cn114452-20210527-00331
- VernacularTitle:植物固醇血症及其实验室诊断研究进展
- Author:
Haibing DAI
1
;
Luya WANG
;
Shengkai YAN
Author Information
1. 遵义医科大学附属医院检验科，遵义 563003
- Keywords:
Atherosclerosis;
Phytosterolemia;
ABCG5/G8;
Laboratory Diagnosis
- From:
Chinese Journal of Laboratory Medicine
2021;44(11):1082-1085
- CountryChina
- Language:Chinese
-
Abstract:
Phytosterolemia is a rare, severe autosomal recessive sterol storage disorder caused by homozygous or compound heterozygous mutations in one of the ABCG5 and/or ABCG8 adenosine triphosphate binding cassette (ABC) genes. The most prominent features of phytosterolemia are the significantly increased serum content of plant sterols. Present review focused on the laboratory diagnosis of phytosterolemia, briefly described the metabolism of phytosterols, and introduced the latest research progress on phytosterolemia diagnosis, its relationship with ASCVD and laboratory diagnostic methods (including the detection of serum concentrations of phytosterols, ABCG5/G8 gene mutation). We hope this article could improve readers′ awareness and attention on this disease.
