Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia

Article Abstract:

Familial hypercholesterolemia is an inherited condition in which levels of low-density lipoprotein (LDL) cholesterol are unusually high because the body cannot break down LDL cholesterol normally. Persons with this disorder are at increased risk for developing coronary artery disease (CAD), yet not all these individuals do develop CAD. This suggests that there are other important risk factors involved. One such factor may be elevated lipoprotein(a), a substance found in the blood which appears to contribute to the accumulation of fatty plaques in the arteries serving the heart, much as LDL cholesterol does. A group of 115 persons with familial hypercholesterolemia was studied to evaluate whether lipoprotein(a) level was correlated with occurrence of CAD. The blood level of lipoprotein(a) in the 54 subjects with CAD was significantly higher than in the other 61 subjects who did not have CAD. Of all the factors studied, including age, sex, smoking habits, and all other blood lipids, lipoprotein(a) was the variable that best distinguished between the CAD group and the group without this disease. Genetic analysis of most subjects was also performed to identify different types of the compound apolipoprotein(a), which affects lipoprotein(a) level. Differences were found between the groups with and without CAD in the genetic varieties of apolipoprotein(a) that were present. It is concluded that a high level of lipoprotein(a) is a strong risk factor for CAD in persons with familial hypercholesterolemia, and that the high lipoprotein(a) levels in the patients with CAD were inherited. (Consumer Summary produced by Reliance Medical Information, Inc.)

Complications and side effects, Hyperlipidemia, Lipoprotein A

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Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease

Article Abstract:

A mutation in the gene for apolipoprotein B appears to be linked to elevated cholesterol levels, a condition called hypercholesterolemia. Researchers used gene analysis to identify a mutation called Arg3500Gln in a Danish population consisting of 9,255 from the general population, 948 with coronary heart disease and 36 with hereditary hypercholesterolemia. Blood cholesterol levels were significantly higher in those with this mutation and those with heart disease or hypercholesterolemia were much more likely to have the mutation. Apolipoprotein B is a protein that helps remove cholesterol from the blood.

Gene mutations, Gene mutation, Apolipoproteins

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Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

Article Abstract:

The incidence of coronary heart disease was compared over a 15-year interval in a study according to the presence or absence of sequence variants in the proprotein convertase substilisin/kexin type 9 serine protease gene (PCSK9) that are associated with reduced plasma levels of low density lipoprotein (LDL) cholesterol. The data indicate that moderate lifelong reduction in the plasma level of LDL cholesterol is associated with a substantial reduction in the incidence of coronary events even in populations with a high prevalence of non-lipid-related cardiovascular factors.

United States, Science & research, Research, Low density lipoproteins

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