This condition is caused by a mutation in apolipoprotein E (ApoE), that serves as a ligand for the liver receptor for chylomicrons, IDL and VLDL, also known as very-low-density-lipoprotein receptor. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation. This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise known as remnants, and therefore leads to accumulation of cholesterol within scavenger cells (macrophages) to enhance development and acceleration of atherosclerosis.
Familial dysbetalipoproteinemia
Abetalipoproteinemia
Familial hypertriglyceridemia
Glycogen storage disease type III
Gaucher's disease
Glycogen storage disease type 0
Inborn errors of carbohydrate metabolism
Neonatal hemochromatosis