Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia

Abstract

Background and Aims: Familial dysbetalipoproteinemia (FD) is an AR disease and is associated with polymorphisms of apoE. The typical genotype is apoE2/E2 and phenotype a mixed dyslipidaemia in context of another metabolic or genetic trigger factors. The gold standard for diagnosing FD is the ultracentrifugation of lipoproteins, which is often not available in clinical practice. However, there are also several diagnostic criteria that can define patients with a probable FD diagnosis suitable for further testing. The aim of this work was to compare different algorithms used in practice.