Cholesterol is a waxy, fat-like substance in your blood stream that helps with digesting fatty foods and making hormones. It’s essential for good health. However, having too much cholesterol can cause heart disease, strokes and other health issues.
High cholesterol is a common condition that affects about 2 out of 5 Americans. There are a number of factors that can affect your cholesterol levels, including diet, activity level, lifestyle and genetics. High cholesterol may also be caused by a hereditary condition called familial hypercholesterolemia (FH). People with FH aren’t able to manage their cholesterol levels with lifestyle changes alone, and they have a significantly increased risk of developing heart disease and other health concerns.
Knowing if you have hereditary high cholesterol can give you a better understanding of your personal health risks. Diagnosing and treating FH early can reduce your risk of heart disease by around 80%. Learn more about familial hypercholesterolemia, how to manage it and available genetic screenings.
Familial hypercholesterolemia is a genetic disorder that affects how the body regulates cholesterol
Your body produces two types of proteins that carry cholesterol. These proteins have different impacts on your overall health:
- High-density lipoprotein (HDL) – carries cholesterol away from the arteries. It’s considered the “good” kind of cholesterol protein because higher levels of it can lower your risk of heart disease.
- Low-density lipoprotein (LDL) – carries cholesterol to your artery walls. This increases your risk of heart disease and is considered the “bad” kind of cholesterol protein.
Familial hypercholesterolemia is a genetic disorder that causes increased levels of LDL cholesterol in the bloodstream. FH is different than other types of high cholesterol because people who have FH aren’t able to maintain healthy levels of LDL through lifestyle choices, like regular activity, a balanced diet and other methods. Instead, medications are often needed to control cholesterol levels. Without proper care, people with FH are significantly more likely to develop heart disease, and develop it at a younger age, than those without it.
How high cholesterol can be genetic
Familial hypercholesterolemia can be caused by a genetic change (mutation) in one of four different genes (LDLR, LDLRAP1, APOB and PCSK9). These genes play a role in how the body regulates cholesterol and removes it from your blood. Between 60-80% of people diagnosed with FH have a mutation in at least one of these four genes.
Since familial hypercholesterolemia impacts the body’s ability to keep levels of LDL cholesterol in the healthy range, fatty plaque builds up in the veins and arteries. This greatly increases the risk of a heart attack, stroke, heart failure and heart disease.
There are two types of familial hypercholesterolemia
Heterozygous FH (HeFH) is the most common type of familial hypercholesterolemia. In this case, someone has inherited the gene mutation from one parent. People with this type of familial hypercholesterolemia may develop heart disease as young as 30 years old.
Homozygous FH (HoFH) is a rare form of FH where someone inherits gene mutations from both parents. This type of FH is more severe and can cause LDL cholesterol levels above 400 mg/dL. Without early detection and treatment, it’s possible for someone with HoFH to develop heart disease within the first 10 years of life.
Signs of familial hypercholesterolemia
Both adults and children can be diagnosed with FH. It’s most commonly detected through regular cholesterol screenings (lipid panels). LDL levels over 190 mg/dL in adults or 160 mg/dL in children can be an indicator of familial hypercholesterolemia. However, having high cholesterol doesn’t mean that it’s caused by a hereditary condition like FH.
Typically, someone with familial hypercholesterolemia also has a family history of heart attacks or early onset heart disease. It’s important to talk with your doctor about your family health history because this can help identify FH.
Familial hypercholesterolemia can also cause cholesterol to build up in different parts of the body. This can create physical signs of FH, which include:
- A whitish-gray ring around the cornea and iris in your eye
- Yellow bumps around your eyes and on the eyelids
- Bumps on the knuckles, elbows or knees
- Thickened Achilles tendons
Keep in mind that not everyone with familial hypercholesterolemia develops these physical signs.
Treatment for familial hypercholesterolemia
Early detection is key to managing FH. The earlier you’re diagnosed, the earlier your doctor can start you on a treatment plan that keeps your LDL cholesterol level low and reduces your risk of heart disease. Typically, treatment plans for familial hypercholesterolemia include some type of statin, a class of medications that lowers the cholesterol in the blood. Depending on your needs, your doctor might also prescribe other types of medications.
In addition to medications or other treatments, here are a few lifestyle choices that can help manage your cholesterol levels:
- Eating a whole-food diet rich in plants
- Getting enough physical exercise
- Limiting alcohol
Your doctor will talk with you about steps you can take to keep your cholesterol levels under control. If needed, you may be referred to a cardiologist or other lipid specialist with experience managing FH.
Genetic testing to determine if you have familial hypercholesterolemia
The majority of people with high levels of LDL don’t have hereditary high cholesterol. But if you have a family history of heart disease or a family history of familial hypercholesterolemia, you might benefit from genetic testing.
Genetic testing for familial hypercholesterolemia is often recommended for people who have:
- Physical signs of FH
- High LDL levels above 190 mg/dL that can’t be managed with lifestyle changes
- A family history of heart disease
- A family history of FH
Genetic counselors and DNA health screenings are two options that can provide genetic testing services for hereditary high cholesterol.
Genetic counselors
Genetic counselors talk with you about your family medical history, counsel on your genetic health risks and coordinate clinical genetic testing. They also discuss what your test results mean for you and your family. If needed, genetic counselors can also guide you toward additional care you might need to manage your health risks.
In order to meet with a genetic counselor, you typically need a referral from another doctor. Insurance coverage for genetic counseling services varies depending on your insurance plan.
DNA health studies and screening programs are a good place to start for genetic screening for familial hypercholesterolemia. In Minnesota, you can get screening through myGenetics at no cost to you. This large-scale community health research study provides you with information about three hereditary conditions: familial hypercholesterolemia, Lynch syndrome (hereditary colon cancer), and hereditary breast and ovarian cancer. You can also get information from myGenetics about regional ancestry and traits like caffeine sensitivity.
Keep in mind that myGenetics only screens for familial hypercholesterolemia and not all forms of high cholesterol. If you have a personal or family history of familial hypercholesterolemia, consider speaking with your primary care provider to discuss a referral to a genetic counselor or cardiologist. They can help determine if clinical genetic testing makes sense for you.