Why the study?
Familial dysbetalipoproteinemia has an underestimated prevalence, and the practical applicability of its diagnostic criteria and its prevalence in Russia had not been assessed.
What is the prevalence of familial dysbetalipoproteinemia and the applicability of its diagnostic criteria in a Russian population?
What is the prevalence of familial dysbetalipoproteinemia and the applicability of its diagnostic criteria in a Russian population?
Familial dysbetalipoproteinemia has a high prevalence of 0.67% in Russia, and diagnostic algorithms using apoB levels require population-specific correction, while a triglycerides cutoff ≥ 1.5 mmol/L is useful for identification.
Answers are grounded in this paper and cite their sources.
FD diagnostic algorithms may require correction; pilot data leaves open prospective validation before clinical use.
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.
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Блохина et al. (2023) studied this question.
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