FH Europe Foundation highlights the genetic cause of high cholesterol on FH Awareness Day, September 24, 2024
Amsterdam, The Netherlands, September 24, 2024 — As we mark FH Awareness Day on September 24, FH Europe Foundation calls attention to the critical need for increased awareness, early diagnosis, and appropriate management of Familial Hypercholesterolaemia (FH), a genetic disorder that significantly raises the risk of cardiovascular disease from an early age. This year, the Foundation is also proud to spotlight its leadership in two cutting-edge projects: PERFECTO and PerMed FH, both of which emphasise the importance of early screening, of personalised prevention and precision medicine in tackling the burden of FH detection and management.
Understanding FH: The Difference Between High Cholesterol and Genetically High Cholesterol
High cholesterol is a significant public health challenge in Europe, contributing heavily to the burden of cardiovascular diseases (CVDs), which remain the leading cause of death across the continent. In 2020, cardiovascular diseases were responsible for approximately 32.7% of all deaths in the European Union (EU), which equates to about 1.7 million deaths. In 2021 CVD cost the EU economy EUR 282 billion, 100 billion more than the entire EU budget. This makes CVDs more deadly than any other disease category, including cancer (22.5% in 2020). And undoubtedly very costly.
High cholesterol is a key risk factor for ischemic heart disease* and stroke, which are the most prevalent types of cardiovascular diseases in Europe. It is estimated that around one-third of ischemic heart disease cases globally are attributable to high cholesterol levels. This condition leads to significant healthcare costs and loss of life years due to disability and premature death. Across Europe, there are stark regional differences in the impact of high cholesterol on cardiovascular health. For instance, Eastern European countries generally report higher mortality rates from ischemic heart diseases related to cholesterol than Western European nations. This discrepancy is partly due to differences in diet, healthcare access, the social determinants of health, and public health initiatives. Efforts to reduce the burden of high cholesterol and associated CVDs in Europe include public health campaigns promoting healthier lifestyles, improved management of cholesterol through medication, and policies aimed at reducing trans fats and promoting heart-healthy diets.
High cholesterol is generally associated with unhealthy lifestyle factors such as poor diet, lack of exercise and tobacco use. However, Familial Hypercholesterolaemia (FH) is a genetic condition that leads to extremely high levels of low-density lipoprotein (LDL) cholesterol from birth. This condition is not caused by lifestyle but by inherited genetic mutations, in one of the following genes: LDLR gene, APOB gene, and PCSK9 gene. While many people develop high cholesterol over time due to lifestyle choices, those with FH are at a significantly higher risk of early heart attacks and other heart health complications, even if they maintain a healthy lifestyle. And as it is a familial disorder, it affects blood relatives from one generation to the next.
FH has two forms. The heterozygous FH (HeFH) is the most common inherited metabolic disorder, affecting approximately 1 in 300 people, which makes over 30 million people globally. In Europe alone, around 2.5 million individuals, including 500,000 children, live with FH, yet only an estimated 10% have been diagnosed and treated. There is also the more rare and severe form, called homozygous FH (HoFH), which occurs when a child inherits muted genes from both parents. Without early detection and intervention, individuals with HoFH face a risk of heart attacks, strokes, and other serious cardiovascular conditions already in the first decade of their lives.
Without the correct diagnosis, individuals with genetic high cholesterol are often undertreated, while the opportunity to screen their blood relatives is unfortunately missed.
PERFECTO: Preventing Cardiovascular Disease Through Paediatric Screening
The PERFECTO project, recently launched and co-funded by the European Union, represents a groundbreaking initiative in personalised prevention. Focused on FH paediatric screening, PERFECTO aims to create robust evidence supporting the implementation of early screening across Europe. Early identification of children and their relatives with familial high cholesterol, followed by appropriate interventions, can dramatically reduce the risk of cardiovascular disease later in life. The project aligns closely with the EU Cardiovascular Health Plan, which emphasises the importance of early detection and preventive healthcare.
PerMed FH: Tailoring Treatment Through Precision Medicine
Another critical project, PerMed FH, launched in January 2024, focuses on the application of precision medicine in diagnosing and managing FH. This project, coordinated by leading European research institutions, aims to improve the understanding of the genetic variations associated with FH and develop personalised treatment plans based on an individual's specific genetic makeup. By tailoring treatments to the genetic profile of each patient, PerMed FH seeks to enhance treatment efficacy, improve patient outcomes, and reduce the incidence of cardiovascular events because of high cholesterol. The project, one of the winning projects of the CaixaResearch Health Research 2023 prize, a competition organised by the "la Caixa" Foundation, has been developed in collaboration with researchers from the University of Helsinki, the University Hospital of Rotterdam, the University of La Réunion Medical School (INSARM unit), and with the FH Europe Foundation (FHEF) and is led by Prof. Mafalda Bourbon and her Team at the Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), in Portugal.
Integrating Efforts on the National, European and global level
This promises to be not just a day, but in some cases a week, of powerful national events covering awareness, education, healthy lifestyles and opportunistic screening for FH Europe Foundation’s Network of patient organisations. Members from Austria, Czechia, Croatia, Ireland, Greece, Hungary, and even Singapore, among many have activities planned! In the course of preparation for the big day, open community calls attracted the attention of friends and partners as well as new groups and individual medical experts from Moldova, Canada, Greece, Germany, the Middle East, and more.
The FH Awareness Day happens against the backdrop of intensified efforts by the European Alliance for Cardiovascular Health (EACH) to establish a European Cardiovascular Health Plan. FH Europe Foundation together with the Network and Patient Ambassadors, has provided crucial contributions to the broader EU Cardiovascular Health Plan proposal over the years. The proposal seeks to reduce the burden of cardiovascular disease across the continent, by focusing on five pillars, which incorporate widespread screening, early diagnosis, personalised treatment, and quality of life.
Following the FH Awareness Day, the world will be celebrating World Heart Day, on September 29th, with the focus on a global petition led by the World Heart Federation (WFH) demanding to prioritise cardiovascular health policies. FHEF has been delighted to sign it and invites everyone to take action which will help save lives.
Call to Action: Understand the Difference, Act on Early Detection
As we mark FH Awareness Day, Magdalena Daccord, FH Europe Foundation’s CEO highlighted “It is crucial for everyone—policymakers, healthcare providers, and the public - to recognise the difference between lifestyle-induced high cholesterol and the genetic risk posed by FH. We urge individuals to learn more about FH, a condition that affects millions across Europe but remains underdiagnosed. Families with FH should not endure more heart attacks.” Prof. Albert Wiegman from the Netherlands added “Early screening and detection have been proven to be both cost-effective and possible to implement.” Dr Marius Geanta, FH Europe Foundations Innovation Committee Chair concluded “Combined with personalised prevention and precision medicine, they are essential tools in preventing the preventable, allowing individuals to live healthier. However, these efforts require robust policies that prioritise these approaches within the broader healthcare system.” The urgency to act is clear.
Visit FH Europe Foundation's website to learn more about FH and how you can support efforts to ensure everyone at risk receives the care they need.
Contact: FH Europe Foundation
Email: info@fhef.org
Website: https://fhef.org
Download the press release in pdf here.
About FH Europe Foundation:
FH Europe Foundation is a leading organisation dedicated to raising awareness, improving diagnosis, and supporting individuals affected by Familial Hypercholesterolemia across Europe. The Foundation collaborates with patients, healthcare providers, researchers, and policymakers to advocate for better cardiovascular health outcomes.
* Ischemic means that an organ (e.g., the heart) is not getting enough blood and oxygen. Ischemic heart disease, also called coronary heart disease (CHD) or coronary artery disease, is the term given to heart problems caused by narrowed heart (coronary) arteries that supply blood to the heart muscle.
Apheresis Awareness Day is held annually on the third Tuesday in September, while World Patient Safety Day is observed every year on September 17. In 2024, those two days occur on the same day. And both are very relevant and important to our community of individuals and families living with inherited hyperlipidemia.
This year the theme of World Patient Safety Day is “Improving diagnosis for patient safety” with the slogan “Get it right, make it safe!”, highlighting the critical importance of correct and timely diagnosis in ensuring patient safety and improving health outcomes.
Against the wider backdrop of the current efforts to make the Cardiovascular Health Plan for Europe a reality, ahead of the FH Awareness Day and the World Heart Day and finally with the big projects promoting precision medicine, specifically in the FH, like PERFECTO, PerMedFH and FH Early Screening, it is important to reflect on the meaning of those two days for people who are affected with genetic lipid conditions and who to some extend undergo Apheresis.
On this occasion, we have prepared a special blog by Elsie Evans, FH Europe Foundation Ambassador Program Manager and a person living with HoFH, who due to the rare and severe form of FH has been undergoing aphaeresis for most of their life.
As we observe Patient Safety Day and Apheresis Awareness Day, it's essential to reflect on their significant impact on patients' lives. For those of us living with inherited lipid conditions like Homozygous Familial Hypercholesterolaemia (HoFH), these days are not just dates on a calendar— they are reminders of the importance of early detection, accurate diagnosis, individualised treatment, and the ongoing journey towards better health and quality of life.
The mantra "Get it right, make it safe" resonates deeply with us. Accurate diagnosis and individualised treatment are essential for patient safety and effective management of conditions like HoFH. Early diagnosis, informed by genetic testing, allows for timely and appropriate interventions. Personalised treatment plans ensure that therapies are tailored to our specific needs, enhancing our quality of life and long-term health.
Apheresis is a life-saving treatment for many HoFH patients (as well as those with elevated Lp(a) and even those with FCS during pregnancy).
Aphaeresis is a procedure, which involves filtering the blood to remove excess LDL cholesterol, significantly improving outcomes for people with HoFH. However, it also comes with its challenges. Regular apheresis sessions can be time-consuming (taking place weekly, or every two weeks, for 5 hours on´average) and physically demanding, impacting our daily routines and overall well-being. Apheresis is an invasive procedure, associated with a high risk of infections. For children and people, who suffer from trypanophobia (an intense fear of needles), this life-saving therapy can be psychologically and emotionally taxing. Despite these challenges and lack of understanding of the quality of life impact the benefits of apheresis in managing cholesterol levels and preventing cardiovascular complications are still advocated for as first-line treatment. This deserves more attention with a variety of new options becoming available and therefore widening the choice for us as individuals.
Patient Safety Day serves as a crucial reminder of the importance of safe and effective treatment protocols. For those undergoing apheresis, ensuring that the procedure is performed safely is paramount. Prioritising patient holistic care, healthcare providers can help us feel more secure and supported during our treatments.
Keeping all this in mind, the critical role of genetics in diagnosing and treating lipid disorders cannot be understated. Understanding the genetic basis of inherited lipid conditions allows for early detection and the development of individualised treatment plans. During our HoFH Awareness Day Trilogy webinars, experts emphasised the importance of genetic testing in identifying at-risk individuals and tailoring treatments to their specific genetic profiles. This personalised approach ensures that we receive the most effective therapies for the right person at the right time, improving our outcomes and quality of life.
As we commemorate World Patient Safety Day and Apheresis Awareness Day, let's remember the importance of the individuals and families, who depend on accurate diagnosis, personalised treatment, and patient safety. By raising awareness and advocating for better care, we can make a meaningful difference in the lives of people living with these conditions everywhere.
With the international efforts to make cardiovascular health a public health priority, we must be acutely aware of the importance of safety, quality of life and the progress we have made in research and science to Get it right and make it safe.
Listen to stories of international patient ambassadors, advocating for patient safety and raising awareness of aphaeresis.
2. Penilla Gunther about the global perspective and the need for standardised practices.
3. Maria Nassif, HoFH patient and ambassador, about the importance of diagnosis, the right treatment and patient safety.
4. Athanasios Pallidis, FH patient and ambassador, about what patient safety means to him as a patient.
4. Athanasios Pallidis, FH patient and ambassador, about how healthcare professionals can enhance patient safety during the diagnostic process.
4. Athanasios Pallidis, FH patient and ambassador, about the role policymakers can play in advancing patient safety.
4. Athanasios Pallidis, FH patient and ambassador´s message to our community on advocating for themselves as well as the larger community about asking questions and helping make safety a priority.
Together with the international expert speakers, we are delighted to invite you to this rare and exclusive trilogy of educational webinars, where we will explore the Horizons of HoFH Treatment: Current Options and Future Perspectives.
Whether you are a person living with HoFH, caring for someone with HoFH as a caregiver or as a medical practitioner, in each of the three specific webinars you will be able to deep-dive into the current standards and cutting-edge advancements in Homozygous Familial Hypercholesterolaemia (HoFH) treatment and gain invaluable insights from global experts, engage in interactive discussions, and get your questions answered by the panel of specialists and patient advocates.
What You Can Expect:
All three webinars will be co-moderated by Chyrel Lichaa, an internally recognised HoFH Patient Ambassador from Lebanon, and world-renowned paediatric cardiologist Prof. Albert Wiegman from the Netherlands.
Date & Time: 17 September 2024, 18.00 CEST
Featuring: Prof. Mafalda Bourbon from Portugal, Prof. Steve Humphries from the UK, HoFH Patient Ambassador Thanos Pallidis from Greece and HeFH Patient Ambassador and mother of HoFH Patient - Michlle Watts from the USA.
Topic Highlights: Genetics, gene therapies and novel approaches in HoFH management.
Register for the 1st webinar here.
Date & Time: 19 September 2024, 18.00 CEST
Featuring: Dr Julia Brandts from Germany, Dr Antonio Gallo from France, and Elsie Evans, HoFH Patient Ambassador from South Africa/UK.
Topic Highlights: Statins, ezetimibe, and apheresis – essential tools for managing HoFH.
Register for the 2nd webinar here.
Date & Time: 26 September 2024, 18.00 CEST
Featuring: Prof. Luis Masana from Spain, Prof. Raul Santos from Brazil, and Dr Antonio Gallo from France, together with Maria Nassif from France/Lebanon and Marwa Sadik from the UK, both HoFH Patient Ambassadors.
Topic Highlights: PCSK9 inhibitors, lomitapide, evinacumab, and other emerging therapies.
Register for the 3rd webinar here.
Each session will include interactive discussions with patient advocates, giving you the chance to hear real-world experiences and engage directly with leading experts.
Why Attend?
Who Should Attend?
This webinar series is designed for patients with HoFH and HeFH, and their family members and caregivers, healthcare professionals, and researchers, who are passionate about advancing the treatment of HoFH.
We look forward to your participation in these important discussions that will shape the future of HoFH treatment.