Journal
JOURNAL OF CLINICAL LIPIDOLOGY
Volume 12, Issue 1, Pages 246-249Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacl.2017.10.017
Keywords
Sitosterolemia; Hypercholesterolemia; Myocardial infarction; Coronary artery disease; ABCG8
Categories
Funding
- Mochida Memorial Foundation
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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. (C) 2017 National Lipid Association. All rights reserved.
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