FAMILIAL HYPERLIPIDEMIA NOTES UPDATE

FAMILIAL HYPERLIPIDEMIA

a. Type I Hyperlipoproteinemia
• familial hyperchylomicronemia
• mutation in lipoprotein lipase gene
• increased serum chylomicrons

b. Type II Hyperlipoproteinemia
• familial hypercholesterolemia
• mutation involving LDL receptor
• increased serum LDL
• increased serum cholesterol

c. Type III Hyperlipidemia
• floating or broad beta disease
• mutation in apolipoprotein E
• increased chylomicron remnants and IDL
• increased serum triglycerides and cholesterol

d. Type IV Hyperlipidemia
• familial hypertriglyceridemia
• unknown mutation
• increased serum VLDL
• increased serum triglycerides and cholesterol

e. Type V Hyperlipidemia
• mutation in apolipoprotein CII
• increased serum chylomicrons and VLDL
• increased serum triglycerides and cholesterol