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



Year of publication 2021
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Description 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. Methods: A total of 75 patients aged 62.3±16.5 years with genotype apoE2/E2 and mixed DLP were identified in the MEDPED database in the Czech Republic. The study used diagnostic criteria were - (i) TC/TG ratio (TC > 5mmol/l, TG > 3mmol/l), (ii) nonHDL-c/apoB ratio > 2,6, (iii) apoB/TC ratio < 0,15 and (iv) apoB algorithm (apoB < 1,2g/l, TG > 2,3mmol/l, TG/apoB < 10, TC/apoB > 6,2), which has been described as highly sensitive and specific for the selection of suspected FD patients. Results: Median of maximal TC was 8.8±3.0mmol/l, TG 3.9±6.2mmol/l, HDL-C 1.4±0.5mmol/l, apoB 0.9±0.8 mmol/l and glycaemia 5.0±2.5mmol/l. Criteria (i) and (ii) were met in 84%, resp. 96% of patients, whereas criteria (iii) and (iv) in 85.3%, resp. in 42.7% of patients. Conclusions: There are differences in specificity and sensitivity of diagnostic criteria. The use of the apoB algorithm can define a population with a probable FD diagnosis suitable for further testing.

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