Many different factors can cause high cholesterol. But in addition to diet and lifestyle, one potential cause is genetics.
A condition called familial hypercholesterolemia (FH) can cause you to inherit high cholesterol. People with FH are at higher risk of complications like heart disease.
What Is Familial Hypercholesterolemia (FH)?
FH is a genetic disorder that causes high cholesterol. People with FH have higher levels of low-density lipoprotein (LDL) cholesterol, also known as “the bad cholesterol.”
Mutations in the LDLR, APOB, and PCSK9 genes often cause FH. Those genes regulate and remove cholesterol from your blood. You have two copies of each one of those genes, and just one mutation can cause FH.
Most often, you inherit FH from one parent—called heterozygous FH. In rare cases, you can inherit FH from both parents—called homozygous FH.
About 1 in 250 people in the U.S. have FH, according to the Centers for Disease Control and Prevention (CDC).
The American Heart Association estimates about 1.3 million Americans have FH, including children. But only 10% know they have it.
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Familial Hypercholesterolemia (FH) Complications
High cholesterol puts you at risk for heart attacks or coronary artery disease. People with FH are at risk of those complications at an earlier age.
According to the CDC, if left untreated, FH can cause heart attacks in 50% of men by age 50 and 30% of women by age 60.
Homozygous FH can be even more severe. People with homozygous FH may need bypass surgery before reaching adulthood, according to the American Heart Association. Without treatment, people with homozygous FH often die before their 20s.
If you do have FH, early diagnosis and treatment can prevent complications. The CDC says it can lower your risk of coronary heart disease by 80%.
Signs of Familial Hypercholesterolemia (FH)
FH can be difficult to detect, as many people may assume you just have regular high cholesterol. But there are warning signs, including:
- An LDL cholesterol of higher than 190 mg/dL in adults or 160 mg/dL in children.
- A family history of early-onset coronary heart disease or heart attacks (before age 55 in men or before age 65 in women).
- Achilles tendon pain or swelling.
- Bumps or lumps around your knees, knuckles, and/or elbows (xanthomas).
- Yellowish areas around your eyes (xanthelasmas).
- Whitish-gray, half-moon-shaped area on the surface of your cornea.
Diagnosing Familial Hypercholesterolemia (FH)
Physical exams, lab results, family history, and genetic testing all can play a role in diagnosing FH. A positive genetic test can help alert other family members to get tested.
Screening can be performed by a simple lipid panel and physical examination. Cholesterol deposits on the tendons, under the skin, and around the eyes may suggest FH. Coronary calcium scoring can detect cholesterol buildup in the coronary arteries in people with FH, even in adolescents.
The American Heart Association says people at higher risk should get screened for FH. That includes people with a family history of FH and/or a family history of early-onset heart disease or heart attacks. Children at higher risk of FH should get screened beginning at age 2.
The earlier the diagnosis, the earlier treatment can begin.
Treatment for Familial Hypercholesterolemia (FH)
Early diagnosis and treatment for FH is important to prevent complications. According to the American Heart Association, treatment for FH may include:
- Statin drugs. These are a common treatment for high cholesterol and can reduce your risk of heart attack and stroke.
- Ezetimibe or other cholesterol-lowering drugs.
- Bile acid sequestrants. These drugs reduce the amount of cholesterol the intestines absorb and the amount of cholesterol that reaches the bloodstream.
- PCSK9 inhibitors. These are injectable medicines that block the PCSK9 protein and allow liver cells to remove cholesterol from the blood.
- LDL apheresis. This procedure removes cholesterol from the blood. People with very high LDL cholesterol levels — like people with homozygous FH — may need this treatment every few weeks.
- A healthy diet low in cholesterol and saturated fats.
- Regular exercise.
- Not smoking or stopping smoking.
Although lifestyle decisions like diet and exercise can help, they typically aren’t enough to manage FH on their own. That makes getting the right medications important.
Taking medications and modifying your risk factors can have strong benefits for people with FH. They can reduce your risk of heart attack and stroke.
You should talk to your doctor if you have a family history of high cholesterol, early heart disease, or early heart attacks. If you do have FH, the earlier your treatment begins, the better.
Steven Herrmann, MD, PhD, is a cardiologist at UPMC Cole and UPMC Hamot.
Headquartered in Pittsburgh, UPMC is a world-renowned health care provider and insurer. We operate 40 hospitals and 800 doctors’ offices and outpatient centers, with locations throughout Pennsylvania, Maryland, New York, West Virginia, and internationally. We employ 4,900 physicians, and we are leaders in clinical care, groundbreaking research, and treatment breakthroughs. U.S. News & World Report consistently ranks UPMC Presbyterian Shadyside as one of the nation’s best hospitals in many specialties and ranks UPMC Children’s Hospital of Pittsburgh on its Honor Roll of America’s Best Children’s Hospitals. We are dedicated to providing Life Changing Medicine to our communities.