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Description

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.

Basic Lab Tests (measurements)

• whole blood
  •      echinocytes
  •      acanthocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: