Information displayed below is a subset of the entire knowledge base and may be incorrect, or incomplete intensionally or inadvertently. If you detect a serious error or want access to the complete knowledge base, please contact us.
Heterozygous autosomal dominant hypercholesterolemia is a genetic disorder that is caused by a mutation in the gene that codes for the LDL receptor. This mutation results in a decrease in the number of LDL receptors on the surface of cells, leading to an increase in the amount of LDL cholesterol in the blood. People with this disorder are at an increased risk of developing cardiovascular disease, including heart attack and stroke. Treatment typically involves lifestyle changes, such as diet and exercise, as well as medications to lower cholesterol levels.
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: