Applicability of Diagnostic Criteria and Prevalence of Familial Dysbetalipoproteinemia in Russia
Open accessPreprint — published as 10.3390/ijms241713159
Abstract
Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically-based lipid disorder with the underestimated actual prevalence. In the recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. However, there is not enough data on their use in real-world clinical implementation. We studied the applicability of the most accessible biochemical algorithms to diagnose FD in clinical practice. We also investi-gated the prevalence of FD in one of the European regions of Russia based on a population sample. In this study there was detected a high prevalence of FD: 1 in 151. We demonstrated that the diagnostic algorithms of FD including a diagnostic apoB levels require correction, taking into account the characteristics of the distribution of apoB levels in the population. At the same time a triglycerides cutoff ≥1.5 mmol/L may be a useful tool in identifying subjects with FD. We also analyzed the presence and pathogenicity of APOE variants associated with the autosomal dominant FD in a large research sample.
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Frameshifts p.Glu63ArgfsTer15 and p.Gly145AlafsTer97 were previously described by our team as likely pathogenic for FD.
“Frameshifts p.Glu63ArgfsTer15 and p.Gly145AlafsTer97 were previously described by our team as likely pathogenic for FD [10].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [10]
Section 3.3 identifies both frameshift variants as newly found by the authors and associated with autosomal dominant FD. It classifies p.Gly145AlafsTer97 as likely pathogenic, but p.Glu63ArgfsTer15 as pathogenic—not likely pathogenic. (LLM, conf=0.90)
Experimental — accuracy not yet measuredPreviously developed FD diagnostic algorithms, including apoB level, could not be applied in Russian patients.
“Also, we could not apply previously developed FD diagnostic algorithms, including apoB level, in Russian patients, as we previously described [10].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [10]
Section 2.1 reports low specificity for the apoB level and some other criteria in the ESSE-Ivanovo sample, and Section 3.1 concludes that algorithms including apoB require correction for the population’s apoB distribution. But the paper did apply and evaluate the previously developed algorithms, and found some criteria useful; it does not say that none could be applied in Russian patients. Section 4.7 also limits generalization beyond the Ivanovo region. (LLM, conf=0.86)
Experimental — accuracy not yet measuredPrevious studies have shown that a TG cutoff of ≥1.5 mmol/L is optimal for identifying carriers of the ε2ε2 genotype and FD.
“Previous studies have shown that a TG cutoff of ≥1.5 mmol/L is optimal for identifying carriers of the ε2ε2 genotype and FD [10,51].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [10]
Section 3.1 reports that a TG cutoff of ≥1.5 mmol/L had sufficiently high sensitivity and specificity for identifying ε2ε2 carriers, and says a previous study found it optimal for identifying people with FD. The paper does not establish that this cutoff is optimal for identifying ε2ε2 carriers; its FD recommendation also pairs the cutoff with the ε2ε2 haplotype. (LLM, conf=0.82)
Experimental — accuracy not yet measuredFamilial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent, genetically based lipid disorder.
“Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder.”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [10]
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Cited by
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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
- 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., Shalnova, S. A., Meshkov, A. N., & Drapkina, O. M.
- Affiliations
- Ministry of Health of the Russian Federation (RU)
- Lomonosov Moscow State University (RU)
- Moscow Institute of Physics and Technology (RU)
- Novosibirsk State University (RU)
- Pirogov Russian National Research Medical University (RU)
- ORCID
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2023-06-02
- Volume
- 24
- Issue
- 17
- Pages
- 13159-13159
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC10487848
- OpenAlex
- W4386141455
- Cited by
- 16
- References
- 0
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 6
- FWCI
- 3.14
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- Preprints.org (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- 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
- familial dysbetalipoproteinemia, diagnostic criteria, prevalence, apolipoprotein B, triglycerides, genetic lipid disorders, atherogenic dyslipidemia, Russia
- MeSH terms
- Apolipoproteins B, Humans, Hyperlipoproteinemia Type III, Pilot Projects, Russia, Triglycerides, Prevalence
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