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)
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- Apo C-II deficiency (Bi-allelic APOC2 gene mutations)
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- Apo A-V deficiency (Bi-allelic APOA5 gene mutations)
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- Lipase maturation factor 1 deficiency (Bi-allelic LMF1 gene mutations)
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- GPIHBP1 deficiency (Bi-allelic GPIHBP1 gene mutations)
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Multifactorial or polygenic chylomicronaemia (formerly HLP type 5) |
- Complex genetic susceptibility, including
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- Heterozygous rare large-effect gene variants for monogenic chylomicronaemia (see above); and/or
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- 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)
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- Transient infantile HTG (glycerol-3-phosphate dehydrogenase 1 deficiency) from bi-allelic GPD1 gene mutations
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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)
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Dysbetalipoproteinaemia (formerly HLP type 3 or dysbetalipoproteinaemia) |
- Complex genetic susceptibility (see above), plus
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- APOE E2/E2 homozygosity or
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- APOE dominant rare variant heterozygosity
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Combined hyperlipoproteinaemia (formerly HLP type 2B or familial combined hyperlipidaemia) |
- Complex genetic susceptibility (see above), plus
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- Accumulation of common small effect LDL-C-raising polymorphisms
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