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

J Clin Lipidol. 2018 Jan-Feb;12(1):246-249. doi: 10.1016/j.jacl.2017.10.017. Epub 2017 Nov 20.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 8 / genetics
  • Acute Disease
  • Adult
  • Cholesterol, LDL / blood
  • Coronary Angiography
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Association Studies
  • Humans
  • Hypercholesterolemia / complications
  • Hypercholesterolemia / diagnosis*
  • Hypercholesterolemia / genetics
  • Intestinal Diseases / complications
  • Intestinal Diseases / diagnosis*
  • Intestinal Diseases / genetics
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics
  • Myocardial Infarction / complications
  • Myocardial Infarction / diagnostic imaging*
  • Pedigree
  • Phytosterols / adverse effects*
  • Phytosterols / blood
  • Phytosterols / genetics
  • Polymorphism, Single Nucleotide

Substances

  • ABCG8 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • Cholesterol, LDL
  • Phytosterols

Supplementary concepts

  • Sitosterolemia