Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype
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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 2 ε 1 genotype of apolipoprotein E was detected. The combination of clinical manifestations and genetic factors in this patient leads to the diagnosis of familial dysbetalipoproteinemia. Implementation of genetic testing into routine clinical practice could not only improve disease diagnostics and management, but also help prevent their development.
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Three carriers of the rare p.Gly145Asp variant had the ε2ε2 genotype, forming the rare ε2ε1 genotype.
“In our study, three carriers of the rare p.Gly145Asp variant had the ε2ε2 (homozygous for the common p.Arg176Cys variant), forming the rare ε2ε1 genotype [32,33,34,35,36].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [36]
Based on previous research, the ε2ε1 genotype is considered likely pathogenic for FD.
“Based on previous research data [32,33,34,35,36], we considered the ε2ε1 genotype as likely pathogenic for FD.”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [36]
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Cites
Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease
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Sorted by citations
Blokhina, A. V., Ershova, A. I., Kiseleva, A. V., Sotnikova, E. A., Zharikova, A. A., Zaicenoka, M., Vyatkin, Y. V., Ramensky, V. E., Kutsenko, V. A., Garbuzova, E. V., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252312651 · Cited by 8 · see citing works
Self-citation
- Authors
- Limonova, A. S., Ershova, A. I., Meshkov, A. N., Kiseleva, A. V., Divashuk, M. G., Kutsenko, V. A., & Drapkina, O. M.
- Affiliations
- National Research Center for Preventive Medicine (RU)
- Lomonosov Moscow State University (RU)
- Ministry of Health of the Russian Federation (RU)
- Corresponding author
- Limonova, Alena S.
- ORCID
- Venue
- Frontiers in Cardiovascular Medicine
- Publisher
- Frontiers Media SA
- Published
- 2021-01-18
- Volume
- 7
- Pages
- 585779-585779
- ISSN
- 2297-055X (ISSN-L)
- PMC
- PMC7847930
- OpenAlex
- W3124912041
- Cited by
- 6
- References
- 2
- Citations by year
- 2024: 1 · 2023: 2 · 2022: 1 · 2021: 2
- FWCI
- 1.01
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Cardiovascular Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- hypertriglyceridemia, premature atherosclerosis, eruptive xanthoma, tendinous xanthoma, familial dysbetalipoproteinemia, genetic testing, lipid metabolism genes, rosuvastatin, LDL cholesterol
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