Updated on November 16, 2023.
When was the last time you had your cholesterol levels checked? Just as important—and this question may surprise you—have you ever had your children’s cholesterol levels tested?
If you’re at risk for familial hypercholesterolemia (FH), your answer is important. Here’s why.
What is familial hypercholesterolemia (FH)?
FH is a genetic disorder that causes too much low-density lipoprotein (LDL) cholesterol (also known as “bad” cholesterol) to build up in the blood. High levels of LDL raise the risk of having a heart attack or coronary artery disease, and at a younger age. In people with untreated FH, a heart attack will occur in about 30 percent of women by age 60, and in about half of men by age 50, according to the Centers for Disease Control and Prevention (CDC).
People with FH usually can’t treat their high cholesterol with only healthy lifestyle habits like exercise and a nutritious diet. They will also need medications to help manage cholesterol levels. This means it’s critical to diagnose FH as soon as possible. Treating FH early in life can lower your risk of developing heart disease by about 80 percent.
Since it’s a genetic disorder, FH is different from similar diseases that mostly affect adults; children can have FH, too. The good news is that children can also receive treatment for it, starting between 8 and 10 years old.
How common is FH?
About 1 in 250 people have FH, according to the CDC. Most people with FH only have one inherited gene mutation, a condition called heterozygous FH. In very rare situations, a person may have two FH-causing genetic mutations. This is called homozygous FH, and it’s a serious condition that can cause heart attacks in childhood.
Both types of FH put patients at high risk for premature heart disease.
What are the signs and symptoms of FH?
Familial hypercholesterolemia affects about 1.3 million adults and children in the United States, according to the American Heart Association. But only about 10 percent of those people realize they have the condition.
Signs of FH to watch for may include:
- Cholesterol levels over 190 mg/dL (adults) or 160 mg/dL (children)
- Swollen or painful cholesterol deposits (bumps) in the arm tendons or Achilles tendons in the back of the legs
- Yellow-looking areas near or on the white part of the eyes
- A white-gray, half-moon shape on the outside of the cornea in the eye
It’s important to note that some people won’t have any physical symptoms—just high cholesterol.
How is FH diagnosed?
To diagnose FH, a healthcare provider (HCP) will test your cholesterol levels by ordering a routine cholesterol panel, also called a lipid panel or lipid screening. It’s a fasting blood test that looks at the high-density lipoprotein (HDL) levels (also known as “good” cholesterol) as well as LDL and triglyceride levels in your blood.
They will also do a physical examination, looking for any signs of cholesterol deposits in your tendons or around your eyes. They’ll take into account your personal and family medical history, as well.
If the HCP think it’s likely you might have FH, they may order genetic testing. Confirming a diagnosis allows a person with FH to discuss early treatment options. It’s also an opportunity to let family members know that they’re at risk and should get tested, too.
Who is most at risk for FH?
If you or your children have a first-degree relative (parent, sibling, or child) who has had premature heart disease or an early heart attack (before the age of 50), or been diagnosed with FH, then you and your kids (aged 2 and up) should see an HCP to be screened.
All children, regardless of family history, should also have their cholesterol checked between ages 9 and 11 and again between ages 17 and 21.
How to manage and treat FH
If you’ve been diagnosed with FH, you’re already a step ahead of the condition, as many people go undiagnosed.
The treatment for FH includes medication, diet, exercise. It’s typically started earlier in life and is more aggressive than treatment for cholesterol that isn’t hereditary, with the goal of reducing LDL cholesterol by at least 50 percent.
The American Heart Association recommends that people with FH exercise regularly and follow a heart-healthy diet. This means you should try to limit or avoid:
- Saturated fat, trans fat, and fried food
- Processed and red meats
- Dairy products made with whole milk
- Sodium
- Sugary foods and beverages
Instead, you should try to emphasize:
- Fruits and vegetables
- Whole grains and nuts
- Poultry and fish
- Cooking with healthy oils
Statin drugs will be required. Other medications that lower cholesterol may also be required. People with the much rarer homozygous FH may need to undergo a procedure every few weeks, similar to dialysis, that takes cholesterol out of the blood.
Bottom line, it’s important for everyone to be proactive about health, but for those with familial hypercholesterolemia, it’s essential. The earlier this genetic condition is detected and treated, the less likely it will be that heart disease will develop. Taking these steps could protect you and your affected family members from premature heart disease and death.
