Familial hypercholesterolemia is:
Ans. A. Deficient LDL receptors(Ref: Harrison 19/e, Table356.3)Frederickson TypeNomenclatureMolecular DefectType IIaFamilial hypercholesterolemia (FH)LDL receptorFamilial defective Apo B (FDB)Apo B100Autosomal dominant hypercholesterolemia Type II (ADH Type II) Autosomal dominant hypercholesterolemia Type III (ADH Type III)PCS K9Autosomal recessive hypercholesterolemia (ARH)LDL receptor adapter protein (LDLRAP)SitosterolemiaABCG5 or ABCG8
Deficient LDL receptors
Deficient HDL receptors
HMG-CoA reductase deficiency
Deficient VLDL receptors
Lipids