Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Applicability of Diagnostic Criteria and Prevalence of Familial Dysbetalipoproteinemia in Russia

Anastasia V. Blokhina
* ORCID logo ,
Alexandra I. Ershova
,
Anna V. Kiseleva
ORCID logo ,
Evgeniia A. Sotnikova
,
Anastasia A. Zharikova
,
Marija Zaicenoka
,
Yuri V. Vyatkin
,
Vasily E. Ramensky
ORCID logo ,
Vladimir A. Kutsenko
,
Svetlana A. Shalnova
,
Alexey N. Meshkov
ORCID logo ,
Oxana M. Drapkina
ORCID logo
Version 1 : Received: 1 June 2023 / Approved: 2 June 2023 / Online: 2 June 2023 (08:53:37 CEST)

A peer-reviewed article of this Preprint also exists.

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. Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study. Int. J. Mol. Sci. 2023, 24, 13159. 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. Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study. Int. J. Mol. Sci. 2023, 24, 13159.

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.

Keywords

familial dysbetalipoproteinemia; hyperlipoproteinemia type III; APOE; apolipoprotein E; apolipoprotein B; autosomal dominant; remnant lipoproteins; hyperlipidemia; population; genetic

Subject

Medicine and Pharmacology, Clinical Medicine

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF Download Supplementary

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Supplementary Files Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.