Findings in familial hypercholesterolemia: (PGI Dec 2007)

Ans.: C (|Total cholesterol) # Familial hypercholesterolemia is a autosomal codominant disorder characterized by elevated LDL - C with normal triglyceride,, tendon xanthomas and premature atherosclerosis- Harrison 17th/1720# Type 11 hyperlipoproteinemias is also known as familial hypercholesterolemiaChaterjea & Shinde 7th/424Table (Harrison): Frederickson Classification of HyperlipoproteinemiasPhenotypeIIIaIIbIIIIVVLipoprotein, elevatedChylomicronsLDLLDL and VLDLChylomicron and VLDL remnantsVLDLChylomicrons and VLDLTriglyceridesQ++++--++++ to +++++++++Cholesterol+ to +++++++ to +++++ to +++++ to +++ to +++LDL-cholesterol||||||HDL-cholesterol+++++++++++++Plasma appearanceLactescentClearClearTurbidTurbidLactescentXanthomasEruptiveTendon, tuberousNonePalmar, tuberoeruptiveNoneEruptivePancreatitis+++0000+++Coronary atherosclerosis0++++++++++/-+/-Peripheral atherosclerosis0+++++/-+/_Molecular defectsLPL and apoC-IILDL receptor, ApoB- 100, PCSK9, ARH, ABCG5 and ABCG8UnknownApoEApoA-V and UnknownApoA-V and UnknownGenetic nomenclatureFCSFH, FDB, ADH, ARH. sitosteroiemiaFCHLFDBLFHTGFHTGNote: LPLr lipoprotein lipase; apo, apolipoprotein; FCS, familial chylomicronemia syndrome; FH. familial hypercholesterolemia; FD8, familial defective apoB; ARM, autosomal recessive hypercholesterolemia; ADH, autosomal dominant hypercholesterolemia; FCHL, familial combined hyperlipidemia; FDBL, familial dysbetalipoproteinemia; FHTG, familial hypertriglyceridemia