Genetic contributions to hypertriglyceridemia

A. Severe HTG (TG >10 mmol/L)

Monogenic chylomicronaemia (formerly HLP type 1 or familial chylomicronaemia syndrome)

Lipoprotein lipase deficiency (Bi-allelic LPL gene mutations)

Apo C-II deficiency (Bi-allelic APOC2 gene mutations)

Apo A-V deficiency (Bi-allelic APOA5 gene mutations)

Lipase maturation factor 1 deficiency (Bi-allelic LMF1 gene mutations)

GPIHBP1 deficiency (Bi-allelic GPIHBP1 gene mutations)

Multifactorial or polygenic chylomicronaemia (formerly HLP type 5)

Complex genetic susceptibility, including

Heterozygous rare large-effect gene variants for monogenic chylomicronaemia (see above); and/or

Accumulated common small-effect TG-raising polymorphisms (eg, numerous GWAS loci including APOA1-C3-A4-A5; TRIB1, LPL, MLXIPL, GCKR, FADS1-2-3, NCAN, APOB, PLTP, ANGPTL3)

Other

Transient infantile HTG (glycerol-3-phosphate dehydrogenase 1 deficiency) from bi-allelic GPD1 gene mutations

B. Mild to moderate HTG (TG 2.0 to 9.9 mmol/L)

Multifactorial or polygenic HTG (formerly HLP type 4 or familial HTG)

Complex genetic susceptibility (see above)

Dysbetalipoproteinaemia (formerly HLP type 3 or dysbetalipoproteinaemia)

Complex genetic susceptibility (see above), plus

APOE E2/E2 homozygosity or

APOE dominant rare variant heterozygosity

Combined hyperlipoproteinaemia (formerly HLP type 2B or familial combined hyperlipidaemia)

Complex genetic susceptibility (see above), plus

Accumulation of common small effect LDL-C-raising polymorphisms

HTG: hypertriglyceridemia; TG: triglycerides; HLP: hyperlipidemia; GWAS: genome-wide association study; LDL-C: low-density lipoprotein cholesterol.

Reproduced from: Laufs U, Parhofer KG, Ginsberg HN, Hegele RA. Clinical review on triglycerides. Eur Heart J 2020; 41(1):99-109c. By permission of Oxford University Press on behalf of the European Society of Cardiology. Copyright © 2020.

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Genetic contributions to hypertriglyceridemia