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What is Fredrickson&;s type II hyperlipoproteinemia is due to excess amount of and explain in detail?
Type II: Familial Hypercholesterolaemia (FHC): A common disorder which has been extensively investigated.The disease is characterised by:Hyper b-lipoproteinaemia (LDL |)Associated with increased total cholesterol |VLDL may be raised, hence total TG may be high.But plasma usually remains clear.Inheritance: Autosomal dominant; Frequency--0.2 percentEnzyme deficiency (metabolic defect): There is no enzyme deficiency. Metabolic defects are:An increased synthesis of apo-B |Defective catabolism of LDL. Deficiency of LDL receptors in fibroblasts demonstrated.Clinical features: Xanthomas of tendinous and tuberous type have been describedCorneal arcusOccasionally xanthelasma. Clinically most impoantis the increased incidence of atherosclerosis andpremature cardiovascular diseases.Note: Type-II Pattern can develop as a result of hypothyroidism(secondary hyper or lipoproteinemia).Ref: M.N. Chatterjee - Textbook of Biochemistry, 8th edition, page no: 451