Symptoms
High cholesterol is a common medical condition, but it's often the result of unhealthy lifestyle choices, and thus preventable and treatable. With familial hypercholesterolemia, a person's risk of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes cholesterol. This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol, the "bad" cholesterol, from the blood. As a result, plaques can cause your arteries to narrow and harden, increasing the risk of heart disease. Genetic testing can reveal whether you have this mutation.
These gene mutations are passed from parent to child. To have the condition, children need to inherit an altered copy of the gene from one parent. Most people with familial hypercholesterolemia have one affected gene and one normal gene. In rare cases, a person inherits an affected copy from both parents, which can lead to a more severe form of the condition.