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
Explore the highlights from FH Europe's February 2025 Heart Beat newsletter to catch up on the latest news and events in the world of cardiovascular health:
We are delighted to welcome two new members to the FH Europe Foundation team, further strengthening our network and expertise. Their commitment and experience will contribute significantly to our mission of improving the lives of those affected by inherited lipid disorders.
Maja Bartoszewicz-Moritz Joins as Project Manager for Rare Diseases
We are pleased to introduce Maja Bartoszewicz-Moritz, who joins FH Europe Foundation as Project Manager for Rare Diseases. With over 15 years of experience as a rare disease advocate, caregiver, and patient representative, Maja brings a wealth of expertise to our team. She leverages her deep knowledge in healthcare systems across Sweden, Italy, Poland, and speaks four languages, making her well-equipped to drive meaningful change.
With a background in leadership, cross-sector collaboration, and stakeholder engagement, Maja bridges the gap between patients, caregivers, healthcare professionals, and industry leaders. Her advocacy journey became deeply personal when her daughter was diagnosed with a rare genetic condition in 2018, fueling her mission to amplify underrepresented voices and improve healthcare accessibility.
Combining a strong understanding of medical, commercial, and insurance sectors with a passion for collaboration, Maja is committed to ensuring that those affected by rare diseases receive the support and recognition they deserve. She firmly believes: "Alone, I can make an impact. Together, we can change tomorrow."
Magda Anthousi Joins as Project Manager
We also welcome Magda Anthousi to the team as EU Projects Manager. A Cypriot professional based in Limassol, Magda has a diverse background in public health, chemistry and banking. She holds a degree in Chemistry from the National and Kapodistrian University of Athens (EKPA) and began her career in the pharmaceutical industry at MEDOCHEMIE. She later spent 18 years at the National Bank of Greece (Cyprus) Ltd, where she also obtained a diploma in banking.
After leaving the banking sector, Magda pursued a master's degree in public health (CUT), with a focus on biostatistics and epidemiology. Currently, she serves as an external research associate at the Cyprus University of Technology (TEPAK), a chemistry teacher in the public education sector in Cyprus. Since December 2024, Magda has been involved in PERFECTO FH and is taking over management of PerMed FH and FH EARLY as a Project Manager at FH Europe Foundation. Her multidisciplinary background and commitment to public health make her a valuable addition to our team.
“We are delighted to welcome Maja and Magda to our team and community. Their professional expertise, personal experiences, and dedication will help us make a significant impact in both rare disease advocacy and the delivery of EU-funded projects,” says Magdalena Daccord, CEO of FH Europe Foundation.
With these new additions, FH Europe Foundation continues to expand its impact and drive meaningful change in the field of inherited lipid disorders. We look forward to working together towards a healthier future for all affected individuals.