Cardiovascular diseases familial hypercholesterolemia

Alpha-1 antitrypsin deficiency Cardiovascular diseases Familial hypercholesterolemia Many types using vaccine, toxin or endogenous regulatory protein expression strategies... 

Defects in the LDL receptor have been particularly well explored as a basis of the disease familial hypercholesterolemia (93,111). A number of defects that collectively impair LDL receptor trafficking, binding, or deUvery underHe this disease where LDL and semm cholesterol rise to levels that mediate early cardiovascular mortaUty. Studies of the population distribution of this defect can determine the source of the original mutation. Thus, in Quebec, about 60% of the individuals suffering from familial hypercholesterolemia have a particular 10-kdobase deletion mutation in the LDL gene (112). This may have arisen from an original founder of the French Canadian settiement in the seventeenth century. 

Type I lipoproteinemia is generally caused by the inability of the organism to clear chylomicrons. The problem may be defective ApoC-II or a defective lipoprotein lipase. Very often, chylomicron clearance may be affected by injection of heparin, which apparently releases hepatic lipase from the liver into the circulation. ApoE disorders may be associated with type III lipoproteinemia, in which clearance of IDL is impeded. Increases in circulatory LDL are usually caused by a decrease in tissue receptors specific for ApoB-100. An extreme case of type Ha hyperlipoproteinemia is familial hypercholesterolemia, in which serum cholesterol levels may be as high as 1000 mg/dL and the subjects may die in adolescence from cardiovascular disease. There is total absence of ApoB-100 receptors. Mild type Ila and lib lipoproteinemias are the most commonly occurring primary lipoproteinemias in the general population. 

The Total Plasma and LDL-Cholesterol Levels in Children and Adolescents from Families with Hypercholesterolemia or Premature Cardiovascular Disease ... 

Familial hypercholesterolemia is caused by mutations In the gene encoding the low-density lipoprotein (LDL) receptor. Persons with this disorder have elevated plasma LDL levels and develop cardiovascular disease at abnormally young ages. 

In addition to diabetes mellitus, Mr. Applebod has a hyperlipidemia (high blood lipid level—elevated cholesterol and triacylglycerols), another risk factor for cardiovascular disease. A genetic basis for Mr. Applebod s disorder is inferred from a positive family history of hypercholesterolemia and premature coronary artery disease in a brother. 

Yuan, G., Wang, J. and Hegele, R.A., Heterozygous familial hypercholesterolemia an underrecognized cause of early cardiovascular disease. CMAJ, 174, 1124—1229 (2006). 

The elevated levels of the lipoprotein (LDL) and (VLDL) are usually associated with atheroma formation. Therefore, defects in cholesterol metabolism are a major cause of cardiovascular disease, this is apparent in p>atients with familial hypercholesterolemia, characterized by grossly elevated levels of serum cholesterol, in particular LDL. Reduction of plasma LDL-... 

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