TY - JOUR

T1 - Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

AU - Blokhina, Anastasia V

AU - Ershova, Alexandra I

AU - Kiseleva, Anna V

AU - Sotnikova, Evgeniia A

AU - Zharikova, Anastasia A

AU - Zaicenoka, Marija

AU - Vyatkin, Yuri V

AU - Ramensky, Vasily E

AU - Kutsenko, Vladimir A

AU - Shalnova, Svetlana A

AU - Meshkov, Alexey N

AU - Drapkina, Oxana M

PY - 2023/8/24

Y1 - 2023/8/24

N2 - Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account 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. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample.

AB - Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account 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. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample.

KW - Humans

KW - Pilot Projects

KW - Prevalence

KW - Hyperlipoproteinemia Type III

KW - Apolipoproteins B

KW - Russia/epidemiology

KW - Triglycerides

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85170350547&origin=inward&txGid=212764c68c694c871f2147a30ede06ec

U2 - 10.3390/ijms241713159

DO - 10.3390/ijms241713159

M3 - Article

C2 - 37685967

VL - 24

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 17

M1 - 13159

ER -