Abstract
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.
Keywords:
ABCG8; Coronary artery disease; Hypercholesterolemia; Myocardial infarction; Sitosterolemia.
Copyright © 2017 National Lipid Association. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP Binding Cassette Transporter, Subfamily G, Member 8 / genetics
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Acute Disease
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Adult
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Cholesterol, LDL / blood
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Coronary Angiography
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DNA Mutational Analysis
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Diagnosis, Differential
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Female
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Genetic Association Studies
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Humans
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Hypercholesterolemia / complications
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Hypercholesterolemia / diagnosis*
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Hypercholesterolemia / genetics
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Intestinal Diseases / complications
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Intestinal Diseases / diagnosis*
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Intestinal Diseases / genetics
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Lipid Metabolism, Inborn Errors / complications
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / genetics
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Myocardial Infarction / complications
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Myocardial Infarction / diagnostic imaging*
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Pedigree
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Phytosterols / adverse effects*
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Phytosterols / blood
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Phytosterols / genetics
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Polymorphism, Single Nucleotide
Substances
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ABCG8 protein, human
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ATP Binding Cassette Transporter, Subfamily G, Member 8
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Cholesterol, LDL
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Phytosterols