What is Familial Hypercholesterolemia?

Read this article in Spanish: ¿Qué es la hipercolesterolemia familiar? (PDF)
Video: Comprendiendo la Hipercolesterolemia Familiar (HF)

Familial hypercholesterolemia, or FH, is an inherited condition in which people are born with very high LDL cholesterol levels. If not identified and treated early in life, people with FH are at increased risk for premature heart disease and stroke.

What are the types of FH?

There are two types of FH:

• Homozygous familial hypercholesterolemia (HoFH)
• Heterozygous familial hypercholesteremia (HeFH)

What are the signs and symptoms of FH?

Some people with FH have physical symptoms. Many don’t. One symptom is cholesterol deposits in the Achilles tendons or the tendons of the hands or elbows. People with HoFH also can develop cholesterol deposits in other areas, such as the skin surrounding the eyes or on the outer edge of the cornea.

How is FH diagnosed and treated?

Both types of FH can be diagnosed with a physical exam, blood lab results and personal and family history. If one person in a family has FH, then it’s important for parents, siblings and children to be checked for it. Similarly, if someone in a family has an early heart attack, it’s a good idea for other family members to get tested.

• For children with increased risk for FH, it is reasonable to be screened starting at age 2. All children who were not previously screened should have their cholesterol checked between ages 9 and 11 and again at age 19.
• FH cannot always be treated by diet and exercise alone. Lifestyle changes can help, but cholesterol-lowering medication may be recommended to lower LDL cholesterol.

How can familial hypercholesterolemia be treated?

Heart-healthy lifestyle habits remain important for everyone with FH. Depending on a person’s age and cholesterol levels, FH may require cholesterol-lowering medication to effectively lower LDL cholesterol.