Table 1.

Primary dyslipidemias diagnosis criteria

Primary hyperlipidemia	Genetic defect	Diagnosis criteria
Familial combined hyperlipidemia	Polygenic trait, variants of GCKR, FOXC2, CERS4, TNFRSF1B, and TCF7L2, HNF4A, APOA1/C3/A4/A5 gene cluster, and USF1	HTG, HCT or mixed dyslipidemia High levels of apoB (> 90th percentile or > 120 mg/dl) First-degree relatives with premature CAD with any phenotype
Familial hypercholesterolemia	Defects in LDLR, PCSK9, or APOB genes	> 8 of Dutch Lipid Clinical Network criteria
Multifactorial chylomicronemia	Polygenic nature, large variants effects in LPL, APOC2, APOA5, GPIHBP1, and LMF1	TG > 1000 mg/dl Genotyping for known variants
Familial dysbetalipoproteinemia	Homozygous for apo ε2/ε2	Definite diagnosis can only be achieved with genotype Others include:  TG between 150 and 1000 mg/dl and VLDL-C/TG ratio > 0.30  VLDL-C/TG ratio > 0.194
Lipoprotein (a)	Genetically determined by variants of LPA gene	Measurement of Lp(a)   > 50 mg/dl   > 125 nmol/l

GCKR glucokinase regulator, FOXC2 Forkhead box protein C2, CERS4 ceramide synthase 4, TCF7L2 transcription factor 7-like 2, HNF4A hepatocyte nuclear factor 4 alpha, APOA1/C3/A4/A5 apolipoprotein A1, C3, A4, A5, USF1 upstream stimulatory factor 1, LDLR low-density lipoprotein receptor, APOB apolipoprotein B, PCSK9 proprotein convertase subtilisin/kexin type 9, LPL lipoprotein lipase, APOC2 apolipoprotein C2, GPIHBP1 glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1, LMF1 lipase maturation factor 1, HTG hypertriglyceridemia, HCT hypercholesterolemia, apoB apolipoprotein B, CAD coronary artery disease, TG triglycerides, VLDL-C very-low-density lipoprotein cholesterol, Lp(a) lipoprotein (a)