TABLE 3.

Primary (hereditary) lipoprotein metabolism-related diseases.

Disease name	Estimated prevalence	Pathogenic genes	Effect on lipoproteins
HeFH	1/250–1/200	LDLR, ApoB, PCSK9	LDL-C ↑
HoFH	1/320,000–1/160,000	LDLR, ApoB, PCSK9, LDLRAP1	LDL-C↑↑
Mixed familial hyperlipidemia	1/200–1/100	Upstream transcription factor 1+ modifier gene	LDL-C↑, VLDL-C↑, ApoB↑
Familial dysβ-lipoproteinemia	1/5000	ApoE	IDL and VLDL residual particles (βVLDL) ↑↑
Familial lipoprotein lipase deficiency (familial chylomicronemia syndrome)	2/1 000 000	LPL, APOC2, ApoA5, GPIHBP1, LMF1	Chylomicron and VLDL-C↑↑
Tangier Disease (absence of α lipoproteinemia)	1/1 000 000	ABCA1	HDL-C↓↓
Familial LCAT	1/1 000 000	LCAT	HDL-C↓

HeFH: heterozygous familial hypercholesterolemia; HoFH: homozygous familial hypercholesterole-mia; LCAT: lecithin cholesterol acyltransferase.