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Table 3 Different types of familial HTG [19,20,21,22]

From: Egyptian practical guidance in hypertriglyceridemia management 2021

(Type IIB)
(Type I)
(Type IV)
(Type V)
(Type III)
Lipoprotein change ↑VLDL, LDL ↑Chylomicrons ↑VLDL ↑VLDL, chylomicrons ↑IDL
Lipid change ↑TG, TC ↑TG ↑TG ↑TG, TC ↑TG, TC
Incidence 1/100–200 1/500,000–1,000,000 1/600–1000 1/500 1/10,000
Genetics Polygenic (TG, LDL raising alleles) Monogenic homozygous (autosomal recessive)a Monogenic heterozygous (autosomal dominant)a
Monogenic heterozygous (autosomal dominant)a
Monogenic homozygous (defect in APOE gene)
Time of presentation All in adulthood (earlier with secondary causes) except for FCS (type I) in childhood
Specific for diagnosis Combination of:
ApoB > 120 mg/dL
TGs > 133 mg/dL
FH of premature CVD
TG > 885 mg/dl
Creamy appearance of the blood
Failure to thrive,
Recurrent abdominal pain, nausea, vomiting
Acute pancreatitis (60–80% lifetime risk)
Tuberous xanthoma
Lipemia retinalis
TG 150–885 mg/dl
> 885 mg/dl with secondary insult
Responsive to standard therapy
Require an aggravating effect
TG 150–885 mg/dl
Require an aggravating effect
Lower risk of pancreatitis
Palmer crease xanthomas are pathognomonic
  1. FCH familial combined hyperlipidemia, FCS familial chylomicronemia syndrome, FD familial dysbetalipoproteinaemia, FHTG familial HTG, GPIHBP1 glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein-1, MFCS multifactorial chylomicronemia syndrome, LDL low density lipoprotein, LMF1 Lipase maturation factor 1, LPL lipoprotein lipase, TC total cholesterol, TG TG, VLDL very low-density lipoprotein, FH family history
  2. aDefect in LPL, APOC2, APOA5, GPIHBP1 or LMF1 genes