Familial hypercholesterolemia, or FH, is a serious, inherited health condition in which the body makes too much of the “bad” kind of cholesterol (LDL cholesterol or LDL-C). It’s not caused by lifestyle factors, including diet or exercise. Without treatment, people with FH are at higher risk for early heart disease, heart attack, stroke and even early death. Fortunately, FH can be treated successfully, and many options are available. The earlier someone is diagnosed with FH, the sooner they can start treatment.
Patients with FH who begin lifetime management plans have the same life expectancy as the general population. Untreated FH can shorten one’s lifespan by an average of 20 to 30 years. The sooner someone finds out they have FH, the sooner they can start treatment to lower their risk.
Several factors are considered when diagnosing FH, including:
- Personal health history
- Family health history – Any family history of early heart disease, heart attack or stroke (before 55 years old in men and 60 years old in women).
- Physical signs of FH – Arcus cornealis (a gray or white arc around the eye’s cornea) and xanthomas (small, yellowish bumps on the skin) are visual signs in some people with FH.
- Laboratory results – Cholesterol or genetic testing, through a blood or saliva test, can indicate FH.
FH can be diagnosed 2 ways:
- Clinical diagnosis: Cholesterol testing is a simple blood test that looks at your cholesterol levels including LDL-C (“bad” cholesterol). LDL-C levels combined with personal and family history can be used to diagnose FH.
- Genetic diagnosis: A blood or saliva test that looks for the genetic cause of FH in DNA can be used for diagnosis. This DNA result can also be used to encourage relatives to get tested.
FH affects around 1 in 250 people worldwide. FH is passed down by one or both parents to children through genes, meaning blood relatives are at risk.
- Blood relative: This means any family members who share genes with you.
- First-degree relatives: These are your closest relatives: children, parents, brothers and sisters. If a first-degree relative has FH, you have a 50% chance of having FH as well.
- Distant relatives: These include relatives like grandparents, great-grandparents, aunts, uncles, great aunts and uncles, cousins, etc. If a distant relative has FH, your risk of having it is lower than 50%, but you are at increased risk compared to someone from the general population. Therefore, it’s still important to get tested.
FH affects people of all ages. All children should have their cholesterol checked between ages 9 and 11. Children whose relatives have FH may be screened as early as age 2. Finding out if a child has FH means they can start treatment as soon as possible to prevent heart disease later in life.
In most cases, FH is caused by a variant — also called a mutation — that prevents the gene from working. In those with FH, this variant causes the “doors” in the liver that should remove cholesterol from the blood to operate ineffectively, and cholesterol continues to circulate in the body. High levels of cholesterol build up, leading to conditions such as heart disease, heart attack and stroke. Most people with FH have a variant in one of 3 genes (LDLR, APOB, PCSK9). This is called heterozygous FH.
Very rarely, there may be 2 FH-related variants in 1 person, 1 inherited from each parent. This causes a more severe form of FH, called homozygous FH. For more information about homozygous FH, visit familyheart.org/homozygous-familial-hypercholesterolemia-2.
How to get tested for FH
You can find out if you have FH by taking a cholesterol test, a genetic test or both. Talk to your healthcare provider about FH testing; they can help you determine the next steps.
Here’s how to get tested in your area:
If you live inside Pennsylvania:
- You can see an FH specialist at Geisinger.
Schedule a visit with a Geisinger provider with expertise in FH (often through cardiology) by calling 800-275-6401 or by visiting providers.geisinger.org/search. In-person or video appointments available.
- You can see a genetic counselor at Geisinger.
Schedule a visit with one of Geisinger’s genetic counselors by calling 800-275-6401 or visiting providers.geisinger.org/search. Genetic counselors specialize in genetic testing, but may be able to order a lipid test as well. Phone, video or in-person appointments available.
If you live inside or outside Pennsylvania:
- You can see your primary care provider.
Lipid testing is routinely ordered by primary care providers, and some may be willing to order a genetic test. Talking to your provider about FH testing can be a good first step in finding out if you have FH.
- You can see an FH specialist near you.
Use the Family Heart Foundation’s online search tool to find an FH specialist in your area. You can search for different providers like lipidologists, preventive cardiologists, advanced practitioners and pediatricians.
- You can see a genetic counselor near you.
Use the National Society of Genetic Counselors’ online search tool to find one in your area. While genetic counselors specialize in genetic testing, some may be able to order a lipid test as well. You can also schedule a virtual genetic counseling appointment with Genome Medical. Genetic counseling is required for genetic testing, however, lipid testing is not available through Genome Medical.
Cholesterol testing: A cholesterol test, also known as a lipid panel, measures the level of different fat-related particles (“lipoproteins”) in your blood. A small blood sample is needed and can be drawn at any laboratory. Cholesterol testing can be done as early as age 2. A normal LDL-C level is below 100 mg/dL. People with untreated FH may have very high LDL-C levels (greater than 190 mg/dL).
Genetic testing: A genetic test looks at your DNA to see if there are any variants in genes that are known to cause FH. It typically requires either a blood sample that can be drawn at a laboratory or a saliva sample that can be taken at home using a mail-in kit. A positive result means that a variant was found.
Cascade testing: If you are diagnosed, your family members should be offered cholesterol or genetic testing as well (“cascade testing”).
Cascade cholesterol testing (lipid panel)
- Measures the level of LDL-C (“bad” cholesterol)
- Confirms if the person who was tested has high cholesterol, but does not confirm the reason
- Can help diagnose FH in combination with their personal and family history
- Requires a small blood sample
- May require fasting
- Often part of routine health screenings ordered by your primary care provider
Cascade genetic testing
- Identifies variants (mutations) in genes known to cause FH
- Confirms FH risk for the person who was tested and other family members
- Can be used alone
- Options available for a small blood or saliva sample
- Does not require fasting
- May require a referral to genetic counselor or specialist
Most insurers cover some or all testing costs. Contact your insurance provider to ask about coverage and estimated out-of-pocket costs for a cholesterol test and/or a genetic test for FH.
It may be helpful to first talk to your healthcare provider about your testing options, and to determine if a prior authorization is needed.
If you don’t have insurance, low-cost options may be available through your employer, healthcare provider or other programs (like health fairs).
Watch the pre-test education video. Remember to also:
1. Inform your primary care provider about the information on this webpage and the next steps you plan to take.
2. Discuss getting a cholesterol test that includes an LDL-C level at your visit and/or a genetic test for FH.
3. Share this webpage with your healthcare provider so they can learn more.
An FH diagnosis will give you and your provider more specific guidance on how best to treat your FH and the resulting high cholesterol and elevated risk of early heart disease. For someone with FH, the cholesterol level goals differ significantly from someone who has high cholesterol due to lifestyle factors.
It can also be helpful to know if you did not inherit FH. Knowing whether you have FH helps you communicate with your relatives about their risk.
To learn more about experiences with FH, visit familyheart.org/tools-and-resources/personal-stories.
If a child is diagnosed with FH, the family should talk with the child’s provider about what to do next.
Eating healthy and staying active are important, but they are usually not enough. Most children with FH also need medicine to help lower their LDL (bad) cholesterol. The decision of when to start treatment depends on the LDL-C levels of each child.
Starting treatment early is very important. Lowering LDL-C as soon as possible helps protect the child’s heart and reduces the risk of heart disease later in life. Some medicines, like statins, can be safely used by children as young as 8 years old. Other treatments may also be used, depending on the child’s needs.
Watch to learn about FH in children.
Because FH runs in families, sharing your diagnosis helps relatives protect their health. Try:
“I learned I have familial hypercholesterolemia (FH), an inherited cause of high cholesterol. Because FH runs in families, there’s a chance you might have it too. A cholesterol or genetic test can help you find out.”
Encourage family members to get tested. Offer to share this page and your testing experience.
The best care starts early.
Take the first step. Schedule with an FH specialist or genetic counselor today.