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What is Familial hypercholesterolemia is and explain in detail?
Familial Hypercholesterolemia, or Type IIa hyperlipoproteinemia is defect in LDL-receptors or defect in Apo B100 apoprotein. In this disease, LDL levels & cholesterol is raised in blood. It is Autosomal dominant (AD). ADDITIONAL INFORMATION ON HYPERLIPOPROTEINEMIA: Type Defect Lipoprotein increased TGs Cholesterol Name I Lipoprotein Lipase or Apo C- II Chylomicron || VLDL | || Normal Familial Hyperchylomicronemia (AR) IIa LDL - receptor or Apo B100 LDL|| Normal || Familial Hypercholesterolemia IIb Unknown VLDL| LDL| | | Familial combined Hyperlipoproteinemia (AR) III Apo E Chylomicron Remanant || VLDL remnant | || || Dysbeta - lipoproteinemia or Broad - Beta disease (AR)