Genes and cholesterol

Article Outline

• Copyright

Genetic defects are an important cause of elevated LDL-cholesterol in children. Familial hypercholesterolemia results from a genetic defect for the LDL receptor and is associated with an increased risk for cardiovascular disease. A number of different LDL receptor mutations have been described, some of which result in the absence of the LDL receptor and others result in abnormal function of the receptor.

In this issue of The Journal, Guardamagna et al report on an investigation of whether family history of cardiovascular disease and the type of LDL receptor mutation are associated with differences in plasma lipid values and the intimal-medial thickness in the aorta and carotid arteries. They found that those children with the receptor negative mutations had a higher prevalence of atherosclerotic cardiovascular disease in family members, higher LDL-cholesterol levels, and increased intimal-medial thickness of the aorta and carotid arteries compared with children with a receptor defective mutation. These results are consistent with a higher risk profile for children with receptor negative mutations.

Article page 199▸