Years ago, after giving birth with pre-eclampsia, I had to push to get my blood pressure checked afterwards. Looking back, I wonder if my pre-eclampsia was already a signal of my hereditary elevated Lp(a) at the time. It’s now thought that these two may often occur together, a quiet warning I missed back then.
It turned out I had developed chronic hypertension, and once again, I had to push to get it under control with medication. I’m grateful I did. At the time, I didn’t realise just how much it increased my risk of future cardiovascular disease (CVD). But taking my high blood pressure seriously after pregnancy turned out to be one of the best decisions I could have made for my health. That experience taught me how important it is to recognise and manage risk factors early.
Life has a funny way of connecting the dots, like meeting my husband at university when I was 19 and he was 18. We both signed up for courses, but I also signed up for him. What I didn’t know then was that heart health would become such a big part of our future.
Edwin has familial hypercholesterolaemia (FH), specifically heterozygous FH (HeFH), which runs strongly in his family. FH is an inherited lipid condition and a significant risk factor for cardiovascular disease. HeFH is the most common form of FH, affecting approximately 1 in 250 to 300 people worldwide. His father was once told he likely wouldn’t live past 50. When Edwin was diagnosed at 18, statins were just starting to make a difference. Thankfully, treatments have only improved since then.
When it came time to test our children, I was nervous but hopeful. Thankfully, neither inherited FH, but our son Aedan was found to have elevated Lp(a), something I’d never even heard of. I got tested too, and just like that, more pieces of my own story fell into place.
I thought of my dad. He died of a heart attack when I was just 30. Back then, it was called “bad luck.” But knowing what I know now, it seems likely that this hidden, inherited risk was quietly there all along.
That’s the thing about elevated Lp(a): it often stays invisible until heart disease has already happened. But with better awareness and early testing, we can change the story.
Why early detection matters
Without Edwin’s FH, Aedan and I might never have been tested. Our family’s story is proof of why early screening for inherited conditions like FH and Lp(a) matters so much. We’ve seen firsthand what a difference early diagnosis and the right treatment can make. Today, Edwin leads a healthy, active life. His father, once given a dire prognosis, is turning 80 this year. And he’s still going strong.
Knowing my increased cardiovascular risk, I’ve made deliberate lifestyle changes, improving my diet, exercising, managing my blood pressure, and lowering my LDL cholesterol. These are the things that help me feel confident about my health journey.
But it’s not just about better health. Cardiovascular disease costs the EU an estimated €282 billion annually in healthcare expenses and lost productivity. Early detection of FH and high Lp(a), combined with the right care, doesn’t just save lives, it helps reduce these costs.
Life keeps moving, and our health changes with it. Sometimes in ways we expect, and sometimes in ways that catch us by surprise. I even ended up with braces recently, which my children find endlessly amusing. But whether it’s visible changes like that, or the quieter ones happening inside our bodies, it’s a reminder that looking after our health is never a one-time thing.
And sometimes, no matter how closely you pay attention, things still slip through the cracks.
When your heart doesn’t play by the rules
I was recently diagnosed with INOCA (a condition causing reduced blood flow to the heart, not because of blocked arteries, but due to problems in the small vessels and spasms) after years of searching for answers. It took five cardiologists before I finally got the right diagnosis. For years, I experienced symptoms that slowly got worse. I've had painful experiences with ER visits, the local hospital, and specialists who primarily focus on male heart health and large vessels, while my smaller vessels were the true source of the problem.
My experience as a patient ambassador for the FH Europe Foundation has helped me speak up for myself, but the journey has been incredibly difficult and, at times, soul-crushing.
And I know I’m not alone in that. Women’s hearts are different, yet men’s remain the standard in cardiology. Despite progress, cardiologists in the Netherlands, and in many other countries, are still not required to study women’s cardiology. As a result, symptoms in women are often labelled “atypical”, simply because diagnostic frameworks were built around men.
No matter who you are, when you enter the ER, you take on the role of a patient, and sadly, you can be dismissed or misdiagnosed, especially women with heart conditions. Awareness and education are crucial to changing that.
And sometimes I wonder... maybe it’s no coincidence that I live with both elevated Lp(a) and INOCA. Science hasn’t connected those dots yet, but knowing how both quietly affect the vessels, I wouldn’t be surprised. Then again, I could be wrong.
What I do know for sure is that my story is just one of many. We all deserve to be seen, heard, and properly cared for.
Bringing hidden risks into the light
I never thought elevated Lp(a) would be part of my story. Knowing about it gives you the chance to stay ahead of the risks, take action, and have informed conversations with your doctor.
A single blood test can tell you your Lp(a) level. Unlike cholesterol, it stays constant throughout your life. If it’s elevated, it stays elevated. Yet most people have never even heard of it, even though 1 in 5 people worldwide have elevated levels.
That’s why testing matters. Early detection gives you and your doctor a clearer picture of your overall cardiovascular risk. And if your Lp(a) is high? Then it becomes even more important to manage the risk factors you can control, like your LDL cholesterol, blood pressure, smoking, and making healthy lifestyle choices.
Even though European clinical guidelines recommend Lp(a) testing for people with moderate to high cardiovascular risk, it’s still not widely included in national health policies across Europe. And globally, there’s even more work to do.
This is exactly why we need Lp(a) Awareness Day on 24 March. Because awareness is the first step towards change.
That’s why I’m excited about the upcoming Lp(a) Global Summit 2025 in Brussels. It will bring together experts, policymakers, and patient advocates to finally put Lp(a) on the global agenda and push forward better policies, research, and care.
And while we're here, please learn about INOCA, ANOCA, and MINOCA. These forms of heart disease don’t always show blocked arteries. Instead, they involve spasms, small vessel problems, or heart attacks without the usual blockages. They’re especially common in women, but far too often overlooked.
That needs to change.
Let’s make sure no risk stays hidden.
For ourselves. For our families. For future generations. 💙
👉 Learn more about INOCA, ANOCA, and MINOCA:
https://vrouwenhart.nl/category/coronaire-vaatdysfunctie/
https://inocainternational.com/
https://www.internationalheartspasmsalliance.org/
Prepared by: Renate Kaal-Poppelaars
FH Europe Foundation is proud to endorse the position paper titled "Strengthening Academic Biobanks and Patient Participation for Biomedical Research." This document, developed by organisations such as the German Biobank Node (GBN) and the German Biobank Alliance (GBA), highlights the critical role of centrally organised academic biobanks in advancing biomedical research and patient care.
As a community dedicated to supporting individuals and families affected by familial hyperlipidaemias (HeFH, HoFH, elevated Lp(a) and FCS) and other genetic lipid disorders, FH Europe Foundation recognises the immense value of biobanking in facilitating groundbreaking research. The position paper's emphasis on quality-assured biobanking, sustainable funding, and patient participation aligns perfectly with our mission to improve health outcomes through collaborative research and innovation.
We commend the authors for their insightful analysis and practical recommendations, which will undoubtedly enhance the efficiency and impact of biobanking initiatives. By fostering greater integration of biobanks into research projects and ensuring robust patient involvement, this position paper paves the way for more effective and patient-centred biomedical research.
FH Europe Foundation fully supports the call for increased cooperation with centrally organised academic biobanks and the adoption of participatory research approaches. We believe that these measures will not only advance scientific knowledge but also empower patients and their families by involving them directly in the research process.
We look forward to collaborating with the German Biobank Node, the German Biobank Alliance, and other stakeholders to implement the recommendations outlined in this position paper. Together, we can drive progress in biomedical research and improve the lives of those affected by genetic lipid disorders.
Read more about it here.
The message was loud and clear at the Impact of Rare Diseases: More Than You Can Imagine event in the European Parliament on March 5: people living with rare diseases, including those with HoFH and FCS, cannot afford to wait any longer for faster diagnoses, better treatments, and equitable care.
Co-hosted by MEPs Stine Bosse (Renew, Denmark) and Adam Jarubas (EPP, Poland) in collaboration with EURORDIS-Rare Diseases Europe, this event marked Rare Disease Day 2025 with strong demands for improved EU policies, funding, and cooperation to address the severe gaps in rare disease care.
Our network was represented by Magdalena Daccord and Maja Bartoszewicz-Moritz, highlighting the crucial challenges faced by the HoFH and FCS community. The discussions struck a chord, emphasizing:
Delayed Diagnosis Is Life-Threatening
The powerful testimony of Adéla Odrihocká, an award-winning advocate from the Czech Republic, shed light on the devastating impact of years-long diagnostic odysseys. For conditions like HoFH and FCS, early detection is essential to prevent severe complications—yet many patients still endure prolonged waits for diagnosis and appropriate care.
The Cost of Inaction Is Too High
Tim Wilsdon of Charles River Associates presented new data estimating that rare diseases cost the EU €250 billion annually—six times more than non-rare diseases. Investing in early screening, genetic testing, and specialist care for HoFH and FCS is not just vital for patients but also economically justified.
Access the full report here.
MEPs Demand Change
MEP Stine Bosse called for cross-border collaboration to ensure access to treatments, while Vlad Voiculescu (Romania) emphasized the need for solidarity and stronger newborn screening policies. MEP Tilly Metz (Luxembourg) underscored the importance of holistic care, including mental health support for those living with rare conditions.
A European Action Plan for Rare Diseases
Avril Daly, President of EURORDIS, urged engagement with the new European Commission to secure a long-term strategy for rare diseases. “We can do things cheaper and smarter,” she stated, while Virginie Bros-Facer, CEO of EURORDIS, reinforced the urgency: “Discussion alone is not enough.” A European Action Plan for Rare Diseases must ensure clear objectives, measurable progress, and real political commitment—because every day without action means lives at risk.
Thomas Minten delivered a compelling intervention on the state of newborn screening, leaving a significant impact in the room.
Sebastian Honoré gave an insightful talk on “genetics, omics, and economics”, emphasizing the need for fair and timely access to treatment.
These voices—and many others—continue to champion change in rare disease policies and healthcare access across Europe.
The rare disease community has spoken: we cannot afford to wait. It is time for the EU to act decisively and implement a comprehensive strategy that addresses the urgent needs of people with HoFH, FCS, and all rare diseases.
Read more on the conference and the full recap here.
Today, on March 4, World Obesity Day, we explore an important health connection that affects millions worldwide. For those living with familial hypercholesterolaemia (FH) – a genetic condition causing high LDL cholesterol – emerging research offers new insights into how weight affects their heart health.
People with FH often focus primarily on their LDL cholesterol levels and medication. However, recent research suggests that weight may play a more significant role in their cardiovascular outcomes than previously understood.
What the Research Shows
Dr. Amany Elshorbagy, Cardiovascular Epidemiologist at the Imperial Centre for Cardiovascular Disease Prevention, and the FH Studies Collaboration (FHSC) Investigators, examined over 35,000 patients with FH across 50 countries in the FHSC registry. Their findings, published this year in the European Heart Journal, reveal interesting patterns (see figure):
Read here the accompanying editorial highlighting these findings as a testament to the power of global registry data in advancing clinical care and policy, and advocating a more comprehensive approach to FH management—extending beyond cholesterol medication to personalised management of body weight and lifestyle. The findings are explained in a podcast by Medical Digest, and in a press article by Medscape, with commentary from other experts in the field.
What this might mean for individuals with FH
These findings suggest that for people with FH, factors beyond their genetically high LDL cholesterol may influence heart health outcomes. While cholesterol remains the primary risk driver, weight appears to be another key factor. The research indicates that when both genetic cholesterol issues and excess weight are present, they may create compounding effects on heart health.
A holistic perspective
World Obesity Day offers an opportunity to consider how weight and lifestyle interact with genetic conditions like FH. Healthcare approaches for FH have traditionally focused on cholesterol-lowering medication to prevent heart disease, but this research highlights how multiple factors might work together to determine heart disease risk in individuals with FH. This evolving understanding may lead to more personalised approaches to care.
By sharing this research, we hope to contribute to a fuller understanding of the relationship between weight and genetic cholesterol disorders. As research advances, patients and healthcare providers can have more informed conversations about the various factors influencing heart health in the context of FH.
Prepared by: Dr. Amany Elshorbagy, Cardiovascular Epidemiologist
Imperial Centre for Cardiovascular Disease Prevention,
FH Studies Collaboration (FHSC) Investigators
Would you be interested in getting healthy weight loss support information? At FH Europe Foundation, we are currently assessing the needs and opportunities to support people living with familial hyperlipidaemias healthy weight loss and management advice. Interested? Contact us: info@fheurope.org