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

Abstract

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.

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

Figure 1

The study design: (A) Identification of carriers of the APOE ε2ε2 haplotype, assessment of the sensitivity and specificity of biochemical FD criteria, and prevalence of FD; (B) Identification of previously reported and new APOE variants associated with the autosomal dominant FD, analysis of the genotype–phenotype relationship.