Dr. Albert Wiegman on FH: knowledge, hope and early detection

Introduction

In this interview, Dr Albert Wiegman, a leading expert in familial hypercholesterolaemia, shares his extensive knowledge and experience of this hereditary condition. With more than three decades of experience at Amsterdam UMC, he highlights the various aspects of FH, from diagnosis to treatment, with special attention to the impact on children and women. This conversation offers valuable insights into the current state of FH in the Netherlands and the progress made in treating this condition.

Portrait of Albert Wiegman — Albert Wiegman

Dr Albert Wiegman is a paediatrician who has worked at Amsterdam UMC since 1991, specialising in paediatric cardiology with a prominent research profile in familial hypercholesterolaemia (FH) in children. Since 2020 he has been an associate professor and principal investigator. He is one of the leading experts in the Netherlands in the field of familial hypercholesterolaemia (FH) and elevated lipoprotein(a) [Lp(a)]. He has been conducting research into hereditary lipid disorders for decades. In addition, he is secretary of the board of FH Europe Foundation and has been involved in major national and international guidelines. With his experience as a paediatrician and researcher, he knows better than anyone what FH and elevated Lp(a) mean for patients and their families.

Editorial Note – Stichting VrouwenHart: In this first interview with Dr Albert Wiegman we mainly focus on familial hypercholesterolaemia (FH). The conversation also touches on elevated Lp(a), a hereditary factor that is closely related to cardiovascular disease. We will continue this discussion with him soon in a separate article about elevated Lp(a).

You have worked at Amsterdam UMC since 1991 and you are one of the leading experts in the field of FH. What motivated you to specialise in this hereditary condition?

I was a paediatrician in 1991 and then I went into training for two years to become a paediatric cardiologist. In 1992 I encountered a twelve-year-old boy who had blocked coronary arteries. I carried out a cardiac catheterisation and placed a stent. It turned out that his cholesterol was sky-high; he had homozygous FH. I thought this deserved more attention, so I opened a clinic for FH.

It soon became clear that FH was much more common, especially in the slightly milder form, heterozygous FH. From a family in which someone has homozygous FH, people with heterozygous FH appear on both sides. In this way, the clinic grew into the largest in the world. In the Netherlands people would say, “For familial hypercholesterolaemia you have to go to Bert Wiegman in Amsterdam.” All cardiologists and internists referred their patients under 18 to Amsterdam UMC (AMC location). Over the years this grew to approximately 4,300 children with heterozygous and 43 with homozygous FH.

Can you explain what familial hypercholesterolaemia is and what the heterozygous and homozygous variants entail?

In the Netherlands, 1 in 250 to 300 people has familial hypercholesterolaemia. ‘Familial’ means that it runs in the family and is passed down from generation to generation. ‘Hyper’ means high, ‘cholesterol’ is fat, and ‘aemia’ means in the blood. We use this Latin term so that it is the same in all countries.

There are two forms.

The common heterozygous familial hypercholesterolaemia (HeFH), which means you inherited it from one parent. Then your cholesterol is suddenly twice as high. I explain to children that they have ‘little fishing rods’ in their liver to fish cholesterol out of their blood. The parent who doesn’t have it has two million fishing rods, and they and the parent who does have it each have one million fishing rods. It therefore takes twice as long before the cholesterol is fished out of the blood.

In homozygous FH (HoFH) children have no or almost no little fishing rods, because they got it from both parents. If you have a 1 in 250 chance of having it, you have a 1 in 250 chance of meeting a partner who also has it. Together you then have a 1 in 4 chance that you both pass on the faulty gene. So 250 times 250 times 4 gives 1 in 250,000 – that is the chance of homozygous FH. That means 4 per million in the Netherlands. In homozygous FH the cholesterol is immediately four to ten times as high as normal. If it is ten times as high, that cholesterol quickly accumulates in the blood. That is why we need to be early and start discovering and treating it in toddlerhood. In heterozygous FH we start treatment from eight years of age.

Can cardiovascular disease already develop in children with the homozygous form at a young age?

For a long time, paediatricians in Europe didn’t regard this as a very important condition. But in 2010 and 2011 six children aged 3.5 to 6 years died from homozygous FH, with completely blocked coronary arteries, in various European countries such as Italy, France, the UK, Germany, Austria and Switzerland. All of this has been published. Sometimes you only have 3.5 years to do something, otherwise you may be too late. This was a wake-up call in Europe, and in some countries more attention began to be paid to this condition.

Why is it important to raise awareness of FH, specifically in the Netherlands?

In 2013, together with 22 countries, we investigated how many people with FH had been identified; at that time we thought it was 1 in 500. Denmark had identified only 4% of the expected FH patients, Norway 43%, and America not even 1%. In the Netherlands 71% had been identified, which put us in the lead.

But later it turned out not to be 1 in 500, but worldwide 1 in 250 to 300. If you recalculate that, we are not even at 50% identified. Even the best country, the Netherlands, still has a lot of work to do.

Key facts about FH – prevalence and detection

Worldwide: FH 1 in 250 to 300 – identified approx. 10%
Netherlands: FH 1 in 250 to 300 (~60,000 people) – identified approx. 50%

Even in the Netherlands – a global frontrunner – there is still much work to be done.

In 1994 we went to Minister Borst, who made 20 million guilders available for detection. This led to 2,000 people identified per year. In 2013 Minister Schippers thought that 70% was sufficient and stopped the funding. That was unwise, because in the Netherlands two children with FH are born every day. Amsterdam UMC then founded the LEEFH foundation to continue detection. After a dip we are now back at 850–900 identifications per year, which is still less than the 2,000 previously, but above the number of newborn children with FH. LEEFH now also pays more attention to elevated Lp(a).

We are researching ‘reverse cascade screening’: through children we look back at which side of the families the risk comes from. Grandparents in particular are at risk, so they must be identified quickly.

“Through the child, parents and grandparents are often identified — they are the ones at greatest risk.”
– Dr Albert Wiegman

The heterozygous variant (HeFH) also causes cardiovascular disease at a young age. Can you tell us more about that?

In childhood HeFH is not yet a disease, but we do see that the wall of the carotid artery becomes thicker in untreated HeFH. Every other year we perform ultrasounds of the carotid artery to measure wall thickness. The difference between children with FH and their unaffected brothers and sisters is significant from 7.5 years of age. If you let that continue for a long time, it can eventually — not in childhood, but around 40 years — lead to cardiovascular problems. That is far too early, especially considering these are often the young fathers or mothers of these children.

In 1997 we started treating children with pravastatin. We hoped the acceleration of wall thickness would slow, but to our surprise the wall became thinner. If there is fat in the wall and it has not yet calcified, it can still come out.

That is especially possible in young people. In older people a part is often already calcified, which you cannot get rid of. But in children you can prevent it from ever calcifying, thereby preventing them from developing cardiovascular disease later in life.

Editorial Note – Stichting VrouwenHart:

If you have FH, each first-degree relative (parent, brother or sister, child) has a 50% chance of inheriting FH as well. When both parents have FH, the distribution of chances changes. In that case, there is a 25% chance that their child has HoFH, the rarer and more severe form.

Heredity of FH

Parents with FH	Child’s chance	Type of FH
One parent with FH	50%	HeFH – common form of FH
One parent with FH	50%	No FH
Both parents with FH	25%	HoFH – rare, more severe form
Both parents with FH	50%	HeFH – common form of FH
Both parents with FH	25%	No FH

Because many people do not yet know they have FH, it is more common than expected that both parents unknowingly carry the condition. This increases the chance of a child with HoFH. Early cascade screening is therefore essential.

Worldwide, it is estimated that 1 in 250 to 300 people (>30 million) have FH, but only about 10% have been identified so far. The Netherlands performs better than many countries, though even here less than half of all people with FH have been diagnosed.

How many people in the Netherlands are estimated to have been diagnosed with FH?

If you assume 1 in 300 worldwide, and the Netherlands has 18 million inhabitants, you arrive at about 60,000 people. I think it is as many as 70,000, but let us assume it is 60,000.

What is the ratio between men and women with FH?

It is roughly equal. Of the 4,300 children I have treated, about 2,150 are girls and 2,150 are boys. FH is on chromosome 19, not on the sex chromosome. The same applies to the genes involved in FDB (chromosome 1) and PCSK9 (chromosome 2). If it is on a chromosome other than the sex chromosome, it is always distributed 50–50.

Many women in the Netherlands think FH is well taken care of and not really relevant to them. What would you say to them?

I encounter families where all affected individuals are women by chance, and families where all affected individuals are men by chance. For each child it is either a zero or a one hundred per cent chance. What does stand out is that in FH cardiovascular disease (CVD) occurs more often in men than in women, but early in both.

If CVD occurs in women with FH, it arises just as early as in men. Some women with FH develop CVD later, which in some families leads to the thought: “In our case it doesn’t play a role. We do have high cholesterol, but it isn’t dangerous.” But it certainly doesn’t protect all women.

It is not understood why some develop CVD later than others. And if there’s a man in that family, people sometimes assume he doesn’t need treatment either, and then he still develops problems at a young age. It is always important to detect and treat it early, that applies to women too. In women CVD occurs more often around the age of 55, instead of in men already from the age of 40. That is why premature CVD is defined in men as under 55 years, and in women under 60 years.

There are also differences between boys and girls with FH. Girls already have higher cholesterol values at an early age if they have FH, is that correct?

Yes, but surprisingly they do not have thicker carotid artery walls. Girls have on average higher cholesterol values than boys, but that does not lead to faster thickening of the vessel walls or faster cardiovascular disease. Why most women seem somewhat protected against the higher cholesterol is not entirely clear. In America they tried treating men with female hormones, but they still developed CVD and they developed breasts, so they stopped.

Do cholesterol levels fluctuate due to the menstrual cycle and do doctors adjust checks or treatment for that?

The nice thing about cholesterol and LDL as well is that it is fairly constant. Triglycerides, if you want to measure those, you really need to be fasting. If you have just eaten a sandwich, your triglyceride value goes from 1 to 10. Cholesterol is more or less in a steady state.

We compared the age groups 0–5 years, 5–10 years, 10–15 years and 15–20 years.

In all four groups, LDL cholesterol (LDL-C) in children without FH is on average 2.5 mmol/L.
In children with FH in these age groups, LDL-C averages 5.4 mmol/L, so more than double.

Of course there are occasional peaks, for example if you are ill or have eaten unhealthily. If parents think they can still make progress with healthier eating, I say: “Try to make our job as small as possible”. Definitely try it and we’ll check the cholesterol afterwards.” If it drops further because of that, we will calmly wait. We don’t have a stake in the medication, so if it works without medication, that is best. But in FH it usually isn’t possible to bring cholesterol down to normal levels with healthy eating alone.

What does it mean for women with FH if they want to become pregnant or are pregnant?

If you’re only diagnosed just before becoming pregnant, it is important to know the condition of your blood vessels. During pregnancy, you don’t start medication. We even say: stop any medication that isn’t truly necessary during pregnancy. If you’ve made sure your vessels are in good condition before the pregnancy, you can go through the pregnancy safely and without medication. There are also pregnant women who forget to stop their medicines, and then the babies are born normal. Statins fortunately do not appear to be dangerous, but there has never been deliberate research into this. What we know comes from data collected from pregnant women who continued taking statins by accident.

We are extra cautious because of the thalidomide (Softenon) disaster in the past, but you can compensate for that caution by taking good care of your vessels before pregnancy. The same applies to young men: if they started treatment early, they can safely go a year without medicines if necessary, because their vessels are in good condition. Homozygotes are an exception; they have to visit the hospital much more often.

A Norwegian study was recently published on homozygous patients who continued statins during pregnancy. It showed that this was fairly safe, with only a slightly lower birth weight observed. In America the FDA has removed the strictest warning for statins during pregnancy. How is that in Europe?

In Europe that is not yet the case. The EMA is always a bit more cautious than the FDA, which is sometimes disadvantageous. It would be wise for the EMA to take a good look at the FDA’s decision, which is not taken lightly, and perhaps also make it possible in the Netherlands and across Europe. From the stories of parents who accidentally continued statins and had normal children, I think it is safe, but it should not be based on a feeling; it must always be properly researched.

Editorial Note – Stichting VrouwenHart:

In the United States, the FDA removed the strictest warning against the use of statins during pregnancy in 2021. This does not mean that statins can now be freely used by all pregnant women. The change is mainly intended to give doctors more room to make an individual decision for women at very high risk, for example in hereditary forms of hypercholesterolaemia, on whether temporarily continuing a statin is sensible and responsible.

The FDA emphasises that most women should stop their statin as soon as they know they are pregnant. Breastfeeding while using a statin also remains discouraged, as the medicine can enter breast milk and may pose risks to the baby. In short: the strict prohibition text has been removed, but the warning and caution remain, as more research still needs to be done. At the same time, this shows how important it is that more research is carried out specifically in women, precisely because their situation often differs but has been little studied.

What does this mean for women with FH?
For women with FH, it remains important to always discuss the use of statins during pregnancy or breastfeeding with their doctor. The decision to temporarily stop or, in exceptional cases, to continue treatment always requires a tailored and careful approach.

There can be tension if women are in good condition, well treated, stop statins for a wish to conceive, but it does not immediately work out. Then they breastfeed, which lasts at least a year, and there may be another child after that. Then they may be untreated for years. Is that a risk?

Certainly. Before you start such a trajectory, which can take five years, it is important to know the state of your blood vessels. If everything looks good, there’s no need to worry; arteries won’t suddenly become blocked within a few years. But if it is already questionable, you may need to take statins for a while after a pregnancy to lower your cholesterol and then be re-evaluated. If it is stable, which is often the case, there is no reason for concern. Pregnancy is of course a very healthy occurrence, so the fact that your cholesterol is temporarily a bit higher is not the worst moment in your life.

After the menopause, cholesterol values often rise. What does that mean for women with FH? Should they be checked more often or differently after the menopause?

Targets have been set, for example an LDL-C below 2.5 or even below 1.8 mmol/L. If your cholesterol rises after the menopause, it may mean you need a more intensive statin, a higher dose, or that ezetimibe or PCSK9 inhibitors need to be added. But if you then reach your target value again, you are fine.

You often say that children with FH can live just as long as anyone else. And you even promise them they’ll live to a hundred. What do you mean by your five golden rules?

(laughs) I promise all children that they will live to be a hundred. I have promised that if they turn a hundred, I will send them all a card with a bouquet of flowers, but then I will have to become very old myself. I may not keep that promise. What matters to me is that they understand that FH is not a disaster. They will become a hundred if they stick to five simple things: eat healthily, exercise a lot, do not smoke, take their medicines faithfully and keep looking out when crossing the street. They feel: that is doable, and they go for it. That makes it less heavy. Precisely when you know you can reach a hundred with it, you don’t have to keep talking about disease.

“I promise all children they will live to be a hundred — if they stick to my five golden rules: eat healthily, exercise a lot, do not smoke, take their medicines faithfully, and keep looking out when crossing the street.”
– Dr Albert Wiegman

What treatments are there for FH and how have they changed over the past decades?

In children we are always three to five years behind internal medicine, because we first want to know that the treatment is safe in adults. Safety is just as important as effectiveness in children.

If the group of 18- to 28-year-olds has used a medicine for three to five years and healthy children are born to them, we cautiously dare to think: then we might try this in younger patients as well. We often start with 12- to 18-year-olds, then 6- to 12-year-olds and then children under 6.

This is how experience gradually builds with medicines that have also really been tested for safety. Long-term safety is therefore very important in children. Besides effectiveness of course, it must also work. So if it were not safe, we would stop immediately. One example is cerivastatin, a statin that came on the market around 1999–2000. In combination with certain other agents it caused serious muscle problems. The drug was then withdrawn worldwide, before it was ever given to children.

At Amsterdam UMC we started with pravastatin in children, which had a favourable effect and turned out to be very safe, but it is a weak agent. Then came simvastatin, atorvastatin, rosuvastatin and pitavastatin. We now have many statins, some powerful, others somewhat weaker, but they have all been tested for safety.

I always listen to the parents: if they have side effects with certain statins, I do not prescribe those to their children. Some children have now been using these medicines for 28 years and are all doing well.

After the statins came ezetimibe. Statins ensure that the liver produces more ‘little rods’ to remove cholesterol from the bloodstream. Ezetimibe helps the body to excrete excess cholesterol via the stool. It is a weak agent that only takes off 15% extra in combination with statins, but such a combination is often sufficient in childhood.

If that is not sufficient, there are more medicines for heterozygous FH, such as injections. Can you tell us something about those?

We have participated in global studies with evolocumab, alirocumab and inclisiran. Evolocumab and alirocumab are injected into the skin every two to four weeks, inclisiran once every six months. These drugs lower cholesterol by a further 35–40%. For children who do not reach their target, it is nice that we have new agents.

But we prefer not to give more than two medicines at the same time to children. They aren’t ‘ill’; it’s a condition we manage. We do not want them to feel ill because they have to take three medicines. We always try to manage with two: statins plus ezetimibe for those who are close to their target, and statins plus a subcutaneous injection for those who are still far off.

“They aren’t ‘ill’; it’s a condition we manage.”
– Dr Albert Wiegman

We have seen that in children who only received statins, the vessel wall more or less stabilised, but in those who also received evolocumab, the vessel wall thickness decreased.

After about a year and a half of receiving evolocumab, we saw that in all of them the vessel wall became a bit thinner again. So some extra fat disappeared from the vessel wall. That was because they were not yet completely ‘on target’ before; their cholesterol was still above the target. With the additional treatment they reached the proper level, and then you see the cholesterol disappear from the vessel wall. (This concerns the fat in the vessel wall that had not yet calcified. Calcifications themselves do not disappear).

Fat can disappear as long as it has not yet calcified.
This is exactly why early detection matters.

We have published all of this so that we are not the only country to benefit, but so that the whole world benefits.

And then we have the rare, homozygous form of FH. They have virtually no or no ‘little fishing rods’ to capture cholesterol. In the Netherlands treatment is fortunately well arranged; can you tell us something about that? What treatments are available for these children in the Netherlands?

We have three forms of homozygous FH. You can inherit a so-called null variant from your parents, which means that the ‘little rods’, the LDL receptors, are not produced at all.

There are different types of defects: a synthesis defect, transport defect, binding defect, clustering defect and recycling defect. Nature is economical: it takes about 45 minutes to make a little rod, but within ten minutes it has already been recycled.

If you have a recycling defect, it is not so bad, because you keep making new little rods continuously; we call that a defective variant. But if you have a synthesis defect from both parents, you have zero percent little rods.

If there is still some residual activity, you can try to lower cholesterol with statins and PCSK9 inhibitors. But you need little rods for that; if they are not there, those agents do not work.

About a third of children have a null-null variant, a third null-defective and a third defective-defective. We treat the last group with statins, ezetimibe and PCSK9 inhibitors, and that is often sufficient.

The other two groups used to almost all have to undergo weekly dialysis, the so-called apheresis, to remove cholesterol from the blood.

Editorial Note – Stichting VrouwenHart: Apheresis is a treatment in which LDL cholesterol is removed from the blood, similar to dialysis.

We now have medicines that do not work via LDL receptors at all, such as evinacumab. Evinacumab is an inhibitor of the protein ANGPTL3 (angiopoietin-like 3), and therefore does not work via LDL receptors. Evinacumab inhibits a protein that normally slows the breakdown of fats in the blood.

As a result, cholesterol can drop sharply, even in people without ‘little fishing rods’. This medicine is given by infusion once every four weeks and reduces cholesterol so much that some of our children who were dialysed weekly were able to stop that altogether.

Patient spotlight – Eighteen months later, her coronary artery was open again

In the very first study on this, we had a twelve-year-old girl, a sixteen-year-old boy and a seventeen-year-old girl who took part in the treatment.

That twelve-year-old girl had to undergo weekly dialysis. She had the so-called null-null variant, meaning she had no ‘fishing rods’ from either parent — no LDL receptors.

When we started treatment with evinacumab, a medicine that inhibits a protein which slows down the breakdown of fats in the blood, we saw her cholesterol drop beautifully. As a result, she would no longer need weekly dialysis.

At first, we continued dialysis, and as with all children with homozygous FH, I performed a CT scan of the heart every two years. Up to that point, we had seen some calcification appear in children, and only occasionally a little improvement.

In this girl, one coronary artery had already started to clog despite weekly apheresis. Eighteen months after starting evinacumab, we performed another CT scan, and her coronary artery was open again. The fat had disappeared.

“I thought: this is world news! I could already see the headlines — CNN, BBC, the national news — all at our door.”

But then I realised: she had just turned thirteen, so of course she wasn’t keen on cameras. So I simply went to her myself. I told her that the CT scan showed her coronary artery was open again, and that we could reduce dialysis from weekly to once every four weeks.

She was dialysed on Thursdays and always had French and Spanish lessons on that day — subjects she didn’t like. So she was in tears, because now she had to go to school three Thursdays a month!

Five years have passed since then. She now really enjoys French and Spanish, and she only comes to the hospital once a month for dialysis and the evinacumab infusion.

We don’t do this for recognition, of course, but because it’s good for the patient. Still, it remains a beautiful story.

– Dr Albert Wiegman

Some practical guidance: what are normal LDL cholesterol values?

A normal LDL-C is between 1.7 and 3.4 mmol/L: in milligrams per decilitre that is 65 to 130. In children with homozygous FH we must be below 3 mmol/L, so that fat deposits that have not yet calcified dissolve again. For heterozygous FH we also want to get below 3 mmol/L in the future. That will be the new target in childhood. We always try to start at eight years, others only start at ten years. There is discussion as to whether we should not start at six years. If a child has both heterozygous FH and elevated Lp(a), we must be more intensive. Ultrasounds of the carotid artery show that wall thickness increases more quickly with this combination.

For women reading this and thinking, “The doctor said I have high cholesterol. Could it be FH?” When are cholesterol levels considered suspicious, and when does further investigation make sense?

If FH runs in the family, it often stands out that someone has a heart attack at a young age or dies from it. The family then thinks: “This is strange,” but then goes back to daily life. Only when a second family member has a heart attack far too young do people think: “This runs in the family.” Anyone who has cardiovascular disease under the age of 60, especially a heart attack, the rest of the family should check how their cholesterol is.

Nowadays we also measure Lp(a), which is much more common than FH. Elevated lipoprotein(a) is much more common than FH: about 1 in 5 people has an elevated value, compared to 1 in 300 in FH. If you know your values are normal, you can be reassured. But you must also have other family members checked. It is a one-time check and then you know: I am fine or I am high. If you are too high, that is no longer a serious problem nowadays, because there are things you can do to grow old healthily.

Many women reading this have cardiovascular disease. For them, besides family history, at what threshold does it make sense to talk to their doctor?

We are talking about secondary prevention here, because CVD is already present. I think you would be better off asking that question to Erik Stroes or Jeanine Roeters van Lennep, because I am moving onto their terrain now; I do not treat adults. I mainly work on preventing CVD, so-called primary prevention.

Editorial Note – Stichting VrouwenHart: In a future article, we will again speak with Prof Dr Jeanine Roeters van Lennep, vascular internist and Professor of Women and Cardiovascular Health at Erasmus MC. She has been working for years on research and care related to gender-specific cardiovascular diseases. We will therefore put this question to her then.

Prof Dr Erik Stroes, vascular internist and Professor of Vascular Medicine at Amsterdam UMC, and director of Stichting LEEFH, is involved in the national detection and treatment of hereditary lipid disorders.

If women have had a heart attack before the age of 60, that is suspicious for FH (or for elevated Lp(a)). In that case, in family members any LDL-C higher than normal is already suspicious. If you yourself have CVD, even lower values are targeted, even below 1.4 mmol/L. Cholesterol is like cigarette pack-years: if you smoke long enough, the risk becomes very high; if your cholesterol is high for long enough, it accumulates.

If you had high cholesterol at a very young age, it accumulates even faster. If you always had a nice LDL-C and it is above 3.4 mmol/L for the first time, then there is not much going on. But if 3.4 mmol/L is an expression of the fact that it has been this high your whole life, then you have already taken in quite a bit of cholesterol and it must go further down.

You are also involved with FH Europe Foundation. In your view, what is the role and significance of this organisation for patients and families?

It became so clear to me again last Thursday. When you hear young people with a condition speak, you see teary-eyed parliamentarians. They manage to express powerfully what is needed. FH Europe Foundation takes it so seriously that they organise good webinars that medical specialists tune into. We invite specialists to participate together with people who have the condition. When specialists speak at a conference, it often ends with a hall full of people without questions. But when they speak with patients, the room buzzes with questions. They are motivated to talk about it and and go home with those questions to carry out further research. It is truly win-win. That is the beauty of active patient organisations.

Editorial Note – Stichting VrouwenHart: Stichting VrouwenHart collaborates with FH Europe Foundation, a European organisation dedicated to people with hereditary lipid disorders such as familial hypercholesterolaemia (FH), elevated Lp(a) and FCS. Within this network, more than thirty patient organisations work together to increase awareness, promote early detection and strengthen gender-sensitive care. Through this collaboration, we aim to amplify the voice of women with hereditary cardiovascular diseases and contribute to better recognition, acknowledgement and treatment across Europe.

On Thursday 25 September 2025, young patient ambassadors from FH Europe Foundation spoke in the European Parliament about prevention and lipid screening, as part of the European Action Plan for Cardiovascular Health. This took place during the event Cardiovascular Prevention as the Cornerstone of a Competitive Europe – Scaling Up Lipid Screening to Secure Next Generations.

What is the most important message for people who wonder whether FH may be at play in them or their family?

If someone in your family has had a heart attack at a young age, and you also have heart complaints yourself, you should think: could this be familial after all? Have your cholesterol and Lp(a) tested. In the Netherlands there is no risk in having a genetic test.

In 1994 we agreed with the Minister that we would first approach the insurance companies. For insurance companies, someone who dies is relatively inexpensive, but someone who has a heart attack and has to live with it costs much more. People who come forward for testing should be rewarded rather than punished.

In the Netherlands, if it is hereditary, you actually gain access to all medicines. People whose high cholesterol is lifestyle-related are advised to make lifestyle changes first and do not just gain access to the most expensive agents. Those with hereditary high cholesterol do. That is well arranged, so you are not penalised for getting tested. If it is in your genes, you will be treated more intensively. And if Lp(a) also plays a role, you have a better picture of your risk. If only your LDL-C is elevated and you can easily lower it with healthy eating, then of course keep doing that! The more you can do yourself, the less we need to intervene. But check it and test it.

Editorial Note – Stichting VrouwenHart:

In the Netherlands, genetic testing has no consequences for health insurance.

For life and disability insurance, statutory question limits apply: below that threshold, an insurer may not ask about hereditary predisposition or DNA results. Above that threshold, an insurer may ask about a predisposition to serious hereditary conditions. Even then, this often has no adverse impact. It varies between insurers whether carriers of a hereditary condition actually pay a higher premium or face additional conditions, although this is not the case with many insurers. People with FH can generally be accepted under standard conditions; the assessment is based on the overall risk (including cholesterol levels, smoking, blood pressure, weight and treatment effect). Reassessment, if your values improve, may lead to a lower premium; a reassessment may not worsen the policy. Acceptance policies differ per insurer, so comparing quotes is worthwhile. If you have questions, contact the insurer’s medical adviser or (in case of complaints) the Kifid. Good to know: when taking out life insurance for a mortgage, it is not mandatory to insure the full mortgage amount. In most cases, this means the question threshold is not reached. If you already have an existing policy and make no changes, you generally do not have to report a new DNA result.

More information: Insurance and hereditary conditions | Erfelijkheid.nl | Insurance and heredity (brochure) | Familial Hypercholesterolaemia (FH) and insurability (Dutch Association of Insurers).

Key Points

Familial hypercholesterolaemia (FH) occurs in the Netherlands in 1 in 250 to 300 people, which amounts to approximately 60,000–70,000 individuals.
There are two forms: heterozygous FH (inherited from one parent) and homozygous FH (inherited from both parents, much rarer at 1 in 250,000).
In heterozygous FH, cholesterol is about twice as high as normal; in homozygous FH, four to ten times as high.
Untreated HeFH leads to premature cardiovascular disease, often from the age of 40 in men and around the age of 55 in women.
Early detection and treatment are crucial: fat in the vessel wall can still disappear if it has not calcified.
Treatment consists of statins, ezetimibe, and if insufficient, PCSK9 inhibitors (injections).
For homozygous FH there are special treatments such as apheresis (dialysis) and new medicines such as evinacumab.
With good treatment, people with FH can live just as long as anyone else.
The Netherlands has identified about 50% of familial hypercholesterolaemia patients, which is good by international standards, but there is still much work to do.

Conclusion

In this interview, Dr Albert Wiegman has outlined a comprehensive picture of familial hypercholesterolaemia, a hereditary condition that is relatively common in the Netherlands. Although the Netherlands is at the forefront of detection and treatment of FH, a significant proportion of patients are still undiagnosed. The key message is that early detection and treatment are essential to prevent cardiovascular disease. With current treatment options, people with FH can lead a normal life and can live just as long as anyone else. It is important that people with a family history of early cardiovascular disease are tested for FH and Lp(a). Dr Wiegman emphasises that familial hypercholesterolaemia is not a disease but a condition that can be well treated, and that with the right care, patients “can live to be a hundred”.