Acute myocardial infarction in a 25-year-old woman with sitosterolemia

作者：Kawamura Ryuki; Saiki Hitoshi; Tada Hayato; Hata Akihiro^*

来源：Journal of Clinical Lipidology, 2018, 12(1): 246-249.

DOI：10.1016/j.jacl.2017.10.017

• Sitosterolemia
• Hypercholesterolemia
• Myocardial infarction
• Coronary artery disease
• ABCG8

We report the case of acute myocardial infarction in a 25-year-old woman with sitosterolemia. She was treated using statins, but her low-density lipoprotein cholesterol (LDL-C) levels did not decrease appreciably. Genetic analysis revealed mutations in the ABCG8 gene. Ezetimibe treatment was initiated, and her LDL-C levels decreased substantially. Sitosterolemia must be considered in the differential diagnosis of familial hypercholesterolemia in case of early onset cardiovascular disease patient with high LDL-C.

• 出版日期2018-2