Autosomal recessive hypercholesterolemia

Deficiency of cholesterol 7ft-hydroxylase can cause elevated LDL in the heterozygous state. Homozygotes can also have elevated triglycerides, resistance to reductase inhibitors, and premature gallstones. Autosomal recessive hypercholesterolemia is due to mutations in a protein that assists in endocytosis of LDL. Niacin and ezetimibe may be useful in these disorders. 

Patients with HL deficiency present with hypercholesterolemia and hypertriglyceridemia, and accumulate VLDL remnants, triglyceride-rich LDL, and HDL [84]. These remnants mainly derive from a reduced catabolism of apoB-containing lipoproteins [82]. The disorder appears to be inherited in an autosomal recessive trait and is associated with an increased risk for coronary artery disease [8]. 

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