Type 2 hypercholesterolemia occurs due to -: (A) Lipoprotein lipase deficiency, (B) Absence of LDL receptors on cells, (C) Abnormality in apo E, (D) LCAT deficiency
Answer is B. Ans. is 'b' i.e., Absence of LDL receptors on cells Primary' hyperlipoproteinemias caused by known single gene mutationsGenetic DisorderGene DefectLipoproteinsCI/fGenetic transmission1.Lipoprotein lipase deficiencyLPLChylomicronsEruptive xanthomas, HSM, pancreatitisAR2Familial apolipoprotein C-II deficiencyApoC-IIChylomicrons"---------------"AR3.Apo A-V deficiencyApoA-VChylomicrons VLDL"---------------"AD4.Familial hepatic lipase deficiencyHepatic lipaseVLDL remnantsPremature atherosclerosis pancreatitisAR5.Familial dysbetalipoproteinemiaapoEChylomicron and VLDL remnantsPalmar and tuberoeruptive xanthomas, CHD, PVDAR6.Familial hypercholesterolemiaLDL receptorLDLTendon xanthomas, CHDAD7.Familial defective apoR-100apoB-100 (Arg3500-Gln)LDL"---------------"AD8.AD hypercholesterolemiaPCSK9LDL"---------------"AD9.AR hypercholesterolemiaARHLDL"---------------"AR10.SitosterolemiaABCG5 or 8LDL"---------------"AR