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APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease

Zuzana Pos, Milad Khedr, Jan Radvanszky

    Bratislavske Lekarske Listy
    |March 6, 2023
    PubMed

    Insights

    Familial combined hypolipidaemia, characterized by low lipids, presented atypically with premature vascular disease in a father and his sons. Genetic analysis revealed a novel ABCA1 variant potentially linked to low HDL, challenging assumptions about cardiovascular protection.

    Area of Science:

    • Genetics
    • Cardiovascular Medicine
    • Biochemistry

    Background:

    • Familial combined hypolipidaemia involves very low levels of VLDL, LDL, and HDL.
    • Low LDL/combined hypolipidaemia is often considered protective against cardiovascular disease (CVD).
    • This case challenges the protective notion, presenting with premature peripheral vascular disease.

    Observation:

    • A 57-year-old male with combined hypolipidaemia presented with premature peripheral vascular disease.
    • His two sons (32 and 27 years old) also exhibited a tendency towards low lipid levels.
    • Exome analysis was performed on all three individuals.

    Findings:

    • Common hypolipidaemia gene variants were excluded.
    • A novel ABCA1 variant was identified in all three individuals, potentially causing decreased HDL.
    • A splicing APOC3 variant (rs138326449), linked to decreased triglycerides, was shared by the proband and one son.

    Implications:

    • The risk of atherosclerosis in combined hypolipidaemia is variable.
    • Risk appears dependent on the interplay between low HDL and LDL levels.
    • The specific combination of genetic variants influences atherosclerosis risk in this condition.
    Abstract

    Keywords:
    ABCA1 APOC3.atherosclerosiscoronary artery calcium scorehypoalphalipoproteinaemiahypobetalipoproteinaemiahypolipidaemia

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