Frequently Asked Questions
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About FH & cholesterol
It starts with a suspicion of FH in,
- significantly elevated LDL cholesterol;
- early cardiovascular disease in the patient or family;
- physical characteristics such as tendon xanthomas (fat deposits in tendons) and arcus lipoides (fat ring around the cornea);
- Genetically proven FH in a family member.
A definitive diagnosis can be made through DNA testing, which searches for the defect (disease-causing genetic variant) in genes such as LDLR, APOB, or PCSK9. This test is requested in consultation with a physician or general practioner.
FH means that you "naturally" have higher than average LDL cholesterol, because it is in your genes. In daily life, you often don't notice much of this: you go to work or school, play sports, eat, live like everyone else. The difference is mainly in what happens behind the scenes: you go for blood tests more often, usually take daily medication and pay extra attention to things like smoking, diet and exercise. It sometimes takes some planning (e.g. don't forget medication on vacation), but with good treatment you can live a very normal life.
FH itself usually doesn't cause any noticeable symptoms. High cholesterol doesn't hurt and doesn't give you immediate problems. This is exactly what makes FH tricky: you can feel perfectly healthy, but your blood vessels can get damaged faster if you don't get treatment. Many people say: 'I would never have known I had FH without a blood test.' That's why family screening is important, so family members can do something about it early in life.
Testing is wise if:
- FH runs in your family (e.g., a parent, brother/sister, uncle/aunt with FH).
- In your family occur at a young age of heart or vascular disease (before 60), such as myocardial infarction or angioplasty.
- You yourself have unusually high LDL cholesterol, especially if you are young.
In all these situations, it's wise to talk to your doctor (GP) about further tests. This often starts with a cholesterol test, and DNA testing can then follow to confirm FH. The sooner FH is found, the better you can protect your heart and blood vessels for the future.
FH is a hereditary condition in which your LDL cholesterol ("bad" cholesterol) is elevated from birth. This can lead to faster arteriosclerosis and, without treatment, a higher risk of cardiovascular disease at a younger age.
Lifestyle and age often play a role in "normal" high cholesterol. With FH, there is a defect in the DNA that causes LDL cholesterol to be high almost all the time, even if you live a healthy lifestyle. This is why the risk of cardiovascular disease is higher with FH and treatment is usually necessary at a younger age.
Usually, you don't notice any symptoms of high cholesterol in your body; you don't feel any pain or shortness of breath just because your cholesterol level is high. The symptoms only arise once your blood vessels have already been affected, for example in the case of a heart attack or stroke. That's why detection through blood tests and DNA testing is so important.
FH is one of the most common hereditary metabolic disorders. It affects 1 in 300 people. In the Netherlands, it is estimated that approximately 60,000 people have a genetic FH variant. Genetic testing has confirmed that approximately half of these people have FH.
The Netherlands has a long history of FH screening. From 1994 to 2013, a population screening program was conducted by StOEH, and since 2014, the LEEFH foundation has been assisting families with family screening.
No, of course not. FH is hereditary: you inherit it from (at least) one of your parents. However, you can greatly reduce the risks through lifestyle changes and treatment, so that you remain as healthy as possible. You can also help family members by informing them.
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DNA testing & cascade screening
Step 1: Start DNA Diagnostics for FH, 2 options
- Healthcare provider usesDNA request form, or
- Patient requeststest kitfrom LEEFH and then contacts their doctor or family physician.
There are two types of DNA testing available (see below forcostsandprivacy information)
- Comprehensive panel (no known genetic FH variant in the family).
- Targeted panel (family history, known genetic FH variant in the family).
Step 2: Fill out the application form
The healthcare provider and patient complete the application form. The application form consists of a questionnaire for the physician and a questionnaire withinformed consentfor the patient. With the informed consent, the Amsterdam UMC laboratory can share your data and results with stichting LEEFH.
It is important that both are completed and signed.
Step 3: Blood draw and results
The patient then goes to a blood collection center in the region for a blood sample. The blood sample and request form are sent to Amsterdam UMC (address is on the request form) by the blood collection center. The requesting healthcare provider receives the results from Amsterdam UMC.
Step 4: Family history
If test results confirm a family history of FH, LEEFH will contact the patient to arrange a family screening.
The test itself is performed in the laboratory on your blood. For you, it is limited to a routine blood draw. This may sting or be sensitive, but there are no other particular risks.
A cholesterol test shows that cholesterol levels are high, but not why. DNA testing can definitively determine if there is a disease-causing genetic FH variant in your genetic material. This is important for assessing your risk and treatment, and for targeted testing of family members.
Blood samples can be taken near you, at the blood collection center where you normally have your blood taken. Some general practitioners still take blood samples themselves. The blood collection center sends the blood to Amsterdam UMC.
For children under twelve, it is also possible to have blood drawn at the hospital, after consulting with their general practitioner.
Fasting is not necessary for DNA testing.
Sober means:No eating or drinking (except water) after 10:00/11:00 p.m. the night before.
Even for a standard cholesterol test, fasting is usually no longer necessary, as eating has little effect on the overall result. Only if your triglycerides (a type of fat) are very high may your doctor ask you to fast or to eat a light meal, as a heavy, fatty meal can increase triglyceride levels.
Extensive (panel) DNA testing (no genetic FH variant is yet known in the family) is covered by basic insurance and is therefore fully reimbursed. Please note that this will be deducted in full from your deductible. Everyone aged 18 and over pays a mandatory deductible. This has been determined by the government and applies to all insurers. The mandatory deductible is the amount that the patient must pay themselves before they receive reimbursement from the health insurer. In all cases, make sure you are well informed by your health insurer, for example about the contracts they have concluded with hospitals and healthcare providers in your area.
Targeted DNA testing (if an FH genetic variant is known in the family, family testing) is currently performed free of charge. However, the blood test and any cholesterol measurement are covered by your health insurance and will therefore be subject to your deductible. This is generally only a small amount.
See also page.
If you are the first in your family to undergo testing, extensive (panel) DNA testing will be required. This takes approximately three months on average.
If the genetic FH variant is already known in the family, targeted DNA testing (family testing) is performed, which takes a maximum of eight weeks but is often faster.
The DLCN score is a guideline for healthcare providers for the use of DNA diagnostics. Healthcare providers may have reasons to deviate from this guideline. For example, the DLCN score is based on untreated LDL values, but DLCN does not take into account factors such as age or gender.
For children and adolescents, DLCN is less effective, so use the following as a guideline for the use of DNA diagnostics:
- a confirmed genetic FH variant in the family (first- or second-degree relative) or in;
- LDL > 4.5 mmol/L or;
- LDL > 3.5 mmol/L and (significantly) older patients with premature atherosclerotic coronary disease and/or older patients with high cholesterol.
Category
Treatment & lifestyle
At FH, a healthy lifestyle is very important, but usually not enough to lower LDL cholesterol sufficiently. That is why a combination of medication and lifestyle changes (diet, exercise, not smoking) is often used.
For dietary and lifestyle advice, information is available at:
Treatment often starts with statins (cholesterol-lowering drugs). Sometimes other drugs are added, such as ezetimibe or PCSK9 inhibitors, depending on your values and risk. Your doctor will work with you to develop a treatment plan that suits your situation.
A lot of research is being conducted worldwide into lowering cholesterol in FH. These are long-term studies and, once their effectiveness has been proven, they can be incorporated into Dutch and European (treatment) guidelines.
See also page.
If you experience muscle pain, fatigue, or other symptoms that you link to your medication, do not stop taking it yourself. Instead, discuss it with your doctor (GP) or ask for a referral to a LEEFH Center. Sometimes, adjusting the dose, temporarily pausing, or switching to a different medication can help.
Because FH is a lifelong condition, LDL cholesterol levels typically rise again without medication. Therefore, treatment is often required long-term or even lifelong. Any decision to reduce or stop medication should always be made in consultation with your doctor, based on your individual risk and cholesterol levels.
There's a lot you can do: avoid smoking, get enough exercise, eat healthily (low saturated fat, high fiber), aim for a healthy weight, and limit alcohol. This helps your cholesterol, blood pressure, and overall health. Your doctor or a lifestyle coach can guide you with this.
With FH, the genetic predisposition is permanent. Treatment is therefore often long-term in order to keep LDL cholesterol low. However, the dosage or combination of medications may change over time. This will always be done in consultation with your doctor.
Do not stop taking medication on your own. Instead, discuss any concerns with your doctor or nurse specialist. Sometimes it helps to adjust the dosage, try a different medication, or change when you take it. There are usually several options to find a suitable treatment.
A healthy lifestyle is very important, but with FH, it's often not enough to bring LDL cholesterol to a safe level. Therefore, medication is usually necessary, even if you eat healthily, don't smoke, and exercise sufficiently. Lifestyle and medication reinforce each other.
That depends on your age, test results, and any other risk factors. Initially, check-ups are often more frequent to see how you respond to the treatment. If your condition is stable, the intervals between check-ups can be longer. Ask your doctor for a schedule that suits you.
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Children, pregnancy, and the desire to have children
Children are treated by the pediatrician at the hospital. During the consultation, the treatment can be taken over by a general practitioner.
Yes. If one parent has heterozygous FH, there is a 50% chance that a child will inherit the genetic FH variant. Therefore, it is important to have your children tested in time (in consultation with your doctor), so that they can also be treated if necessary.
Yes, if your cholesterol is high. The sooner, the better.
The pediatric clinic at Amsterdam UMC has developed a brochure containing the most important advice:
- No smoking or vaping
- Do not drink alcohol before you are 18 years old.
- Getting enough exercise
- Healthy eating according to recommendations from the Nutrition Center
Always consult with your healthcare provider, especially since children are still growing.
For children of a parent with FH, it is advisable to be tested around the age of 6. The 2026 European consensus paper states that treatment is both important and safe starting at age 6.
In addition, it is possible to determine whether the baby has FH at birth using an umbilical cord procedure. A so-called umbilical cord package can be requested via LEEFH.
Yes, exercising and playing (outdoors) is actually healthy for the heart and blood vessels.
Many women with FH can safely become pregnant, but it requires extra attention. Some cholesterol-lowering medications (such as statins) should not be used during pregnancy. Therefore, discuss your desire to have children with your specialist at a LEEFH center in good time so that a plan can be made.
If one of the partners has FH, it is wise for the other to have their cholesterol levels checked. If both parents have FH, there is a chance of the very rare, severe FH variant, homozygous FH.
Consult with your doctor or the LEEFH center. They will weigh up the pros and cons for you and your baby and adjust the treatment if necessary.
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Costs, deductible, insurance & privacy
Extensive (panel) DNA testing (this test is performed when FH is not yet known to run in the family) is covered by basic insurance, but is usually entirely at the expense of your deductible.
Targeted DNA testing (if FH is known to run in the family, family testing) is free of charge for you, but there may be (limited) costs for blood sampling.
See also page.
Most standard check-ups and many cholesterol-lowering medications are covered by basic health insurance, sometimes with a co-payment or deductible. This varies depending on the medication and your health insurance provider. Please check with your insurer and discuss it with your doctor.
Everyone must be accepted for basic health insurance, regardless of FH. If in doubt, seek advice from an independent advisor or patient organization.
Data from DNA research and family research are recorded for the purposes of family research. LEEFH has a privacy officer (GDPR). See our privacy statement.
Yes. You have the right to have your medical data deleted. You can request a correction if something is incorrect. For data recorded through LEEFH, please contact LEEFH. The options and contact details are available on LEEFH's contact page.
See also the privacy statement.
No, if you have genetically confirmed FH, it is possible to take out insurance (under standard conditions and at a standard premium from the insurer). However, sometimes a higher premium or adjusted conditions are necessary, for example because of your cholesterol levels. Most insurers will adjust the premium once your cholesterol levels have normalized through treatment. For more information, please visit the website of theDutch Association of Insurers. You can alsodownload thebrochure.
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FH in the family
Yes, in principle. The family is primarily responsible for informing relatives. The LEEFH Foundation will discuss with you how to handle this. You can also ask LEEFH, through a power of attorney, to inform your relatives.
Everyone is free to make their own choice. You can explain what FH is and what early treatment can achieve, but ultimately people decide for themselves. Family members can also contact LEEFH at any time if they have questions.
FH is something you inherit, not something you choose. No one can control which genes are passed on. However, with today's knowledge, you can do something good for yourself and your family by discussing FH and making treatment available.
Sometimes tensions arise: because people differ in how they deal with health, or because old grief suddenly comes into play. Discuss it with your doctor or family doctor, and Stichting LEEFH can also help.
For children, honesty at their level is important. For example, you can explain that FH means that "the body is less able to clear away 'bad' cholesterol" and that medication helps to keep the heart strong. Your doctor can give you tips on words that are appropriate for your child's age. Harteraad has also produced a lovely booklet for children.
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Living with FH
Your GP is usually the first point of contact. Tell them if FH and/or cardiovascular diseases run in your family, or if you have very high cholesterol. Ask if it might be hereditary. If needed, your GP can refer you to a medical specialist. You can also contact LEEFH.
Many people with FH can have a healthy pregnancy, but there are additional considerations. Some cholesterol-lowering medications need to be stopped (temporarily) around the time of pregnancy and breastfeeding. Therefore, discuss any plans to have children with your doctor well in advance, so a safe plan can be made.
There are guidelines for this, but the exact timing depends on your family's situation and your doctor's advice. Often, age, family history, and the possibility of starting treatment promptly are considered. You can discuss this with a pediatrician or a clinical geneticist.
In many cases, you can continue doing what you enjoy, especially if your treatment is well established. Sometimes additional check-ups are necessary, for example if you participate in very intensive sports or do physically demanding work. Consult your practitioner if you are unsure or have new plans.
Concerns about cardiovascular disease in the future are very understandable. It may help to know that early detection and treatment significantly reduce the risk. If you still find yourself worrying a lot, talking to your doctor, a psychologist, or fellow sufferers (for example, through Harteraad) can offer support.
No, if you have genetically confirmed FH, it is possible to take out insurance (under standard conditions and at a standard premium from the insurer). However, sometimes a higher premium or adjusted conditions are necessary, for example because of your cholesterol levels. Most insurers will adjust the premium once your cholesterol levels have normalized through treatment. For more information, please visit the website of theDutch Association of Insurers. You can alsodownload thebrochure.
