FH Dominant Normal (+/+), Hetero (FH/+), Homo (FH/FH) (1 in a million) LDL: 100 mg/dl, 250, >600 Heart attacks:

Normal, 10-20 yrs earlier, before age 20 Bindind LDL: 1, , 0 -> LDL receptor (LDLR) not present in FH/FH

Regulation of LDLR + HMGCoA (necessary for commitment to synthesis of cholesterol) In cell: Low Cholesterol, LDLR up, HMGCoA up Liver: reverse

Treatments A) Heterozygotes + wild type Eat less cholesterol: LDL down 10% Bile acid binding residues: LDL down 20% (forces liver to use cholesterol) HMCoA reductase inhibitor (statins): LDL down 60% up regulate receptors

B) Homozygous a) Hydrophobic -> cant just move in blood stream so it needs to be packaged in particles = lipoproteins, transport form of cholesterol = fatty acid attached, LDL = low density lipoproteins, HDL = high density, HDL = good, LDL = bad, b) Cell membrane = half of lipid bilayer to stiffen the membrane, critical precursor for steroid hormones + vitamin D + bile acids