Home Bratislava Medical Journal Ahead of print Bratislava Medical Journal Vol.124, No.5, p.351–355, 2023

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.564

 

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Bratislava Medical Journal Vol.124, No.5, p.351–355, 2023

Title: APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease
Author: Zuzana POS, Milad KHEDR, Jan RADVANSZKY, Adela PENESOVA, Rastislav HEKEL, Tomas SZEMES, Lakshminarayan Rao RANGANATH, Andrea ZATKOVA
Abstract: BACKGROUND: Familial combined hypolipidaemia is a condition characterised by very low concentrations of circulating very-low-density lipoprotein (VLDL), low-density lipoprotein cholesterol (LDL), and high-density lipoprotein cholesterol (HDL). It is thought that low LDL/combined hypolipidaemia can protect from cardiovascular disease (CVD), but this is not what we found in a case we present.
OBJECTIVE: We report on a 57-years-old male patient with combined hypolipidaemia who presented with premature peripheral vascular disease. We investigated also his two sons, 32- and 27-years-old, who manifested a tendency to low lipid levels.
METHODS AND RESULTS: We used Illumina exome analysis in all three individuals and in all of them we could exclude the major effect of the variants within the genes most frequently mutated in hypolipidaemia, including recently reported LIPC gene variant. Instead, in all three individuals we identified a novel ABCA1 variant, possibly responsible for the decreased HDL levels. The proband and one of his sons also share the splicing APOC3 variant rs138326449, known to be associated with decreased TG levels.
CONCLUSION: The heterogeneous nature and the risk of atherosclerosis in combined hypolipidaemia seems to be variable, based on an interplay between low HDL and LDL levels, and it depends on the combination of variants that cause it (Tab. 2, Ref. 38).
Keywords: hypolipidaemia, atherosclerosis, coronary artery calcium score, hypoalphalipoproteinaemia, hypobetalipoproteinaemia, ABCA1, APOC3
Published online: 27-Feb-2023
Year: 2023, Volume: 124, Issue: 5 Page From: 351, Page To: 355
doi:10.4149/BLL_2023_053


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