Overview

Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack.

The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth. Treatments including medications and healthy lifestyle behaviors can help reduce the risks.

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.

Nov. 17, 2017
References
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