It’s probably not an average-sized, active teenager. But that could be the case if the child has a history of hypercholesterolemia.

Familial  hypercholesterolemia (FH) is an inherited disease, caused by a genetic alteration that causes high blood cholesterol. FH is passed on from generation to generation. 

FH is a common diagnosis in the Endocrinology and Diabetes program at Cook Children’s. One in 500 people have a genetic alteration that causes FH. If one parent has FH, there is a 50 percent chance the child will also have it. Women with FH usually are affected by cardiovascular disease 10 years later than men with FH.

What causes FH?

A change in the gene that codes for low-density lipoprotein (LDL), or what’s sometimes called the “bad cholesterol,” is the particle in the blood stream that carries cholesterol from one cell to another.

Cholesterol is a fatty substance that is needed to build cells, to make hormones, and to make bile acids in the liver. Too much LDL in the blood stream is bad for you and can lead to a buildup in the arteries which will eventually lead to cardiovascular disease.

When you can’t remove the LDL cholesterol from your blood, you have FH.

When FH should be suspected?

• If you have a family history of cardiovascular disease early in life, such as a heart attack before the ages of 50 to 60.
• A high level of cholesterol in the blood.
• Swollen tendons on the heels or hands (xanthoma).
• Yellowish areas around the eyes (xanthelasmas).

How do we diagnose a child with FH?

If your child has the family history or symptoms listed above, a blood test will serve as  DNA testing to find the defective gene. If anyone is diagnosed with FH, all close relatives should be diagnosed because early detection is the key.

Treatment

We begin our treatment of FH with lifestyle changes:

• Decrease saturated fats, which raise the LDL cholesterol level.
• Choose unsaturated fats in place of saturated.
• Increase fiber as that helps lower LDL cholesterol by binding to it and excreting it in the gut.
• Increase exercise – a good rule of thumb is 30 to 60 minutes of exercise each day.

Next, we will look at medication. Medication begins as early as 10 to 12 years old. The treatment will continue for the rest of the patient’s life and could include:

• Statins – to increase the number of LDL receptors to take up LDL cholesterol from the blood.
• Cholesterol uptake inhibitors.

​Familial Hypercholesterolemia can be a scary diagnosis for children and their family, but the child should be able to live a normal and productive life  with proper medication and a few lifestyle changes. 

Reference: Familial Hypercholesterolemia: An educational booklet for patients with Familial Hypercholesterolemia By Dr. Leiv Ose

About the author

Lisa R. Guerra, BSN, RN, is a nurse for the Cook Children’s Endocrinology and Diabetes Program.