What is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is an inherited disorder that affects your body’s ability to clear a specific type of cholesterol, known as LDL-C. Increased levels of LDL-C can cause atherosclerosis, which is deposits of plaque in your arteries. It can also affect how blood flows through your body leading to circulation abnormalities. This can lead to early heart attacks, strokes, and peripheral artery disease.
When is FH suspected?
Treating FH
What does it mean for my family?
When is FH Suspected?
- LDL-C cholesterol is 190 mg/dL or higher in adults
- LDL-C cholesterol is 160 mg/dL or higher in children
- If you or other family members have had a heart attack or stroke at an early age (under age 55 in men and under age 65 in women)
- Genetic testing may confirm an FH diagnosis but is not required for diagnosis
There are two forms of FH: Heterozygous FH (HeFH) and Homozygous FH (HoFH).
Heterozygous FH (HeFH) Homozygous FH (HoFH)
LDL-C cholesterol >160 mg/dL in children
LDL-C cholesterol >190 mg/dL in adults LDL-C >400 mg/dL
May have physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows, and/or between fingers and toes Likely physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/or between fingers and toes. These deposits are not always present
Treatment as early as age 10 Treatment at time of diagnosis, no matter the patient's age, with a specialist
Abnormal gene inherited from 1 parent Abnormal genes inherited from both parents
Occurs in 1 in 250 persons Occurs in 1 in 300,000 persons
| Heterozygous FH (HeFH) | Homozygous FH (HoFH) |
|---|---|
| LDL-C cholesterol >160 mg/dL in children LDL-C cholesterol >190 mg/dL in adults | LDL-C >400 mg/dL |
| May have physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows, and/or between fingers and toes | Likely physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/or between fingers and toes. These deposits are not always present |
| Treatment as early as age 10 | Treatment at time of diagnosis, no matter the patient's age, with a specialist |
| Abnormal gene inherited from 1 parent | Abnormal genes inherited from both parents |
| Occurs in 1 in 250 persons | Occurs in 1 in 300,000 persons |
Learn More
Explore these topics further to learn more about FH.
Treating FH
What does it mean for my family?
Treating Hypercholesterolemia
Cholesterol-lowering medicine is the most important part of treating FH. Patients with FH have levels of cholesterol that are too high to bring to normal with only a healthy diet and physical activity.
How is Familial Hypercholesterolemia treated?
If you have FH, controlling your other risk factors for heart disease is important. Do not smoke cigarettes. Have your blood pressure checked. Take your blood pressure medicine regularly if prescribed. Strive for a healthy weight and get regular exercise.
Even if you are taking cholesterol-lowering medicine, it is still important to eat healthy foods. Talk to your nurse or doctor about a heart-healthy diet. A dietitian can also give you tips about ways to make healthy changes in the foods you eat.
Medication to Treat FH
Several medicines are used to treat FH. The first is usually a statin. Other medicines can be added to reduce the LDL-C to recommended levels. Examples of these medicines include:
- Oral drugs (ezetimibe, bempedoic acid
bile acid sequestrants) - injectable medications (alirocumab and evolocumab)
For some people, a treatment called Lipoprotein Apheresis is used to remove excess LDL-C cholesterol from the body. This procedure is done every one to two weeks.
For HoFH, there are additional treatment options available:
- evinacumab (an infusion once a month)
- lomitapide (a daily oral medicine).
If I have FH, what does this mean for the people in my family?
- Screening all family members for FH is important.
- Children, parents, and siblings have a 1 in 2 chance of having HeFH.
- If both parents have FH, each child will have a 1 in 4 chance of having HoFH.
- Children with a family history of FH should have their cholesterol checked at age 2.
- Children need a heart-healthy diet and regular physical activity.
- Some children with FH will require medication at a young age
Important Things to Remember about FH
- While not curable, treating FH can help you lead a full life and lower your risk of:
- Heart attack
- Stroke
- Circulation problems such as peripheral arterial
disease (PAD)
- Follow-up and taking prescribed cholesterol medicines throughout your lifetime is very important.
- A heart-healthy diet and regular physical activity will
help to lower your heart disease risk.
Learn More
Explore these topics further to learn more about FH.
When is FH suspected?
Treating FH
What does it mean for my family?
Disclaimer: While PCNA strives to provide reliable, up-to-date health information, this and other PCNA education materials are for informational purposes only and not intended as a substitute for professional medical care. Only your healthcare provider can diagnose and treat a medical problem.
