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Front Cardiovasc Med. 2021 Jan 18;7:585779. doi: 10.3389/fcvm.2020.585779. eCollection 2020.

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε.

Frontiers in cardiovascular medicine

Alena S Limonova, Alexandra I Ershova, Alexey N Meshkov, Anna V Kiseleva, Mikhail G Divashuk, Vladimir A Kutsenko, Oxana M Drapkina

Affiliations

  1. Laboratory of Clinomics, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.
  2. Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.
  3. Kurchatov Genomics Center-All-Russia Research Institute of Agricultural Biotechnology, Moscow, Russia.
  4. Biostatistics Laboratory, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.
  5. Department of Theory of Probability, Department of Mechanics and Mathematics, Lomonosov Moscow State University, Moscow, Russia.
  6. National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

PMID: 33537346 PMCID: PMC7847930 DOI: 10.3389/fcvm.2020.585779

Abstract

We present a case of a 40-year-old male with premature atherosclerosis, with evidence of both eruptive and tendinous xanthomas, which could imply an increase in both low-density lipoprotein (LDL) and triglyceride (TG) levels. However, his LDL was 2.08 mmol/l, TG -11.8 mmol/l on rosuvastatin 20 mg. Genetic evaluation was performed using a custom panel consisting of 25 genes and 280 variants responsible for lipid metabolism. A rare ε

Copyright © 2021 Limonova, Ershova, Meshkov, Kiseleva, Divashuk, Kutsenko and Drapkina.

Keywords: apolipoprotein E; familial dysbetalipoproteinemia; genetic testing; premature cardiovascular disease; triglyceride

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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