Rare inherited lipid disorders may affect relatively few people, but the challenges they present are shared by millions of people living with rare diseases around the world. Addressing them requires collective action, global collaboration, and a strong patient voice.

A new milestone that strengthens our voice for people living with homozygous familial hypercholesterolaemia (HoFH), familial chylomicronaemia syndrome (FCS), and other rare inherited lipid disorders within the global rare disease movement. FH Europe Foundation is proud to join Rare Diseases International (RDI), the global alliance of people living with a rare disease, marking an important step forward in our work to improve diagnosis, care, treatment access and equity for people affected by rare inherited lipid disorders. This milestone strengthens our ability to ensure that the realities of people living with HoFH, FCS, and other rare inherited lipid disorders are recognised within the wider rare disease agenda and reflected in future policy and advocacy efforts.
Joining Rare Diseases International is a pivotal step for FH Europe Foundation in putting rare familial hyperlipidaemias on the global map. Together, we can expand our global reach and build a stronger, connected community, strengthening support, amplifying advocacy, and ensuring better care and outcomes for people living with HoFH and FCS, wherever they are. Magdalena Daccord, FH Europe Foundation
Rare inherited lipid disorders may affect relatively small patient populations, but the challenges they bring are shared across the wider rare disease community. Delayed diagnosis, fragmented care, lack of awareness, limited access to specialist expertise, and unequal access to treatment are realities that many families know too well. For people living with HoFH, these delays can have devastating consequences, as the condition causes extremely high LDL cholesterol levels from birth and can lead to serious cardiovascular complications at a very young age if not identified and treated early. For those living with FCS, the burden includes recurrent pancreatitis, major restrictions on daily life, and persistent uncertainty around care and disease management. FH Europe Foundation has consistently highlighted that these conditions are too often under-recognised within the wider rare disease space, despite the very serious impact they have on health and quality of life.
Joining RDI matters because it brings our community into a broader, collective effort to ensure that no rare condition is overlooked. It gives FHEF a stronger platform to make sure the realities of people living with HoFH and FCS are recognised in global and regional discussions on rare disease policy, health system design, diagnosis, and access to care. It also creates new opportunities to contribute to international collaboration, share expertise, learn from other rare disease organisations, and amplify the patient and family perspectives that must shape better policy and better systems. RDI describes itself as a strong common voice for people living with a rare disease around the world, and that shared commitment to patient-driven change makes this membership especially meaningful for our community.
This announcement comes at a pivotal moment for the global rare disease community. In May 2025, the World Health Assembly adopted the first-ever Resolution on Rare Diseases, recognising rare diseases as a global health priority and calling for the development of a Global Action Plan on Rare Diseases. For FHEF, joining RDI means contributing to that growing momentum and helping ensure that rare inherited lipid disorders are not left behind in the policies, frameworks and partnerships now taking shape.
Living with HoFH, I know how invisible rare diseases can feel—but this is bigger than me. Being part of Rare Diseases International means our entire community, including HoFH and FCS, is finally being heard where it matters most—shaping global policies, driving earlier diagnosis, and pushing for equitable access to care so that no life is limited or lost simply because a condition is rare. Elsie Evans, FH Europe Foundation
For our community, this is about more than organisational affiliation. It is about visibility, legitimacy and influence. It is about making sure that the lived realities of those affected by HoFH and FCS help shape the policies that determine whether people are diagnosed early enough, whether families are supported, whether pathways to specialist care exist, and whether innovative therapies are accessible in practice rather than only in principle. FHEF has already underlined that meaningful patient involvement must go beyond simply being present in discussions. Patients and families must be involved early, their contributions must shape outcomes, and there must be transparency about how their expertise is used. Through this new membership, we will continue to champion that standard—not only for our own community, but alongside the wider rare disease movement.
Our engagement with the broader rare disease landscape is already growing. FHEF is part of the European Regional Task Force on Rare Diseases, an initiative led by EURORDIS in collaboration with Rare Diseases International, which is contributing to the development of a European Blueprint for Rare Diseases. FHEF has said this work is critical to ensuring that conditions such as HoFH and FCS are not left invisible in wider policy development, and that priorities such as prevention, early diagnosis, family-based care and lifelong management are reflected in future rare disease strategies. Becoming an Associate member of RDI strengthens that direction of travel and reinforces our commitment to helping shape a future in which rare inherited lipid disorders are recognised and addressed within both European and global frameworks.
As we continue to expand its work across advocacy, research, awareness, education, patient engagement and policy, we look forward to building strong connections with RDI and its members around the world. We believe that lasting progress happens when patients, families, clinicians, researchers, policymakers, civil society and partners work together with ambition and purpose. By joining Rare Diseases International as an Associate member, we are reaffirming that belief—and strengthening our commitment to ensuring that people living with HoFH, FCS and other rare inherited lipid disorders are seen, heard and represented where it matters most.
Because no one should face the challenges of a rare disease alone.

On 31 May 2026, the PERFECTO project officially came to an end after 30 months of collaboration dedicated to advancing paediatric screening for Familial Hypercholesterolaemia (FH) across Europe. Coordinated by FH Europe Foundation and co-funded by the EU4Health Programme, PERFECTO was built around a clear public health ambition: to support the early detection of FH in childhood, strengthen cardiovascular prevention, reduce health inequalities, and help health systems move from awareness to implementation.

 From the outset, PERFECTO was designed to explore how familial hypercholesterolaemia can serve as a model for innovation in cardiovascular prevention. By bringing together scientific evidence, personalised communication, health equity, health economics, patient engagement and policy development, the project developed practical tools and recommendations that can support discussions on the implementation of paediatric FH screening programmes across Europe.

 For me, PERFECTO has been much more than a project. It has been a journey of turning lived experience, scientific evidence and patient leadership into a shared European call for action. It showed that preventing cardiovascular disease starts much earlier than we often think — with awareness, early diagnosis, family empowerment and equitable access to paediatric FH screening. I am proud that PERFECTO helped move FH from being an under-recognised inherited condition to a stronger part of Europe’s prevention agenda. The project may have ended, but the responsibility to prevent the preventable continues. Magda Anthousi, FH Europe Foundation

Why paediatric screening matters

Familial hypercholesterolaemia is one of the most common inherited conditions, affecting approximately 1 in 300 people, yet an estimated 90% of those affected remain undiagnosed. Children with FH are exposed to elevated LDL cholesterol from birth. Without timely diagnosis and management, this lifelong exposure can significantly increase the risk of premature cardiovascular disease, often decades earlier than in the general population.

The encouraging news is that FH is also one of the most actionable inherited cardiovascular conditions. When identified early, children can benefit from lifestyle guidance, regular follow-up and, where appropriate, lipid-lowering treatment that can substantially reduce their long-term cardiovascular risk. Importantly, diagnosing one child often leads to the identification of other affected relatives through cascade screening, enabling parents, siblings and extended family members to receive appropriate care. A single diagnosis can therefore benefit multiple generations, making paediatric screening a powerful strategy for preventing inherited cardiovascular disease.

 Looking beyond screening

Throughout the project, PERFECTO brought together researchers, clinicians, patient representatives, healthcare professionals, policymakers and communities to explore what is needed to make paediatric FH screening more accessible, acceptable and sustainable across diverse European healthcare systems.  

One of the project's defining achievements was the development and piloting of the Personalised Communication Model (PCM). The PCM was built on a simple but powerful principle: successful screening programmes depend not only on scientific evidence and diagnostic technologies, but also on how people receive, understand and act upon health information. PERFECTO recognised that participation in screening is strongly influenced by trust, health literacy, cultural context, family dynamics and people's confidence in navigating healthcare systems. Communication is therefore not an “add-on” to screening — it is one of its essential components. Adopting a person-centred, bottom-up approach, the PCM was designed to help healthcare professionals and public health authorities communicate more effectively with families and communities, improve informed decision-making and strengthen long-term engagement with screening programmes.

 Exploring the value of prevention

Another important contribution of PERFECTO was its work around the societal return on investment (sROI) of paediatric FH screening. While the clinical benefits of early diagnosis are well recognised, PERFECTO explored the wider societal value of prevention, including potential reductions in future cardiovascular events, healthcare costs, productivity losses and the broader benefits created through cascade screening of families. The project helped highlight that investing in early detection can create value beyond the individual patient. Earlier diagnosis may support healthier families, more efficient use of healthcare resources and stronger prevention-oriented health systems over the long term. As European countries increasingly seek robust evidence to support preventive healthcare policies, understanding this broader societal value is essential for the sustainable implementation of screening programmes.

 Putting health equity at the heart of implementation

Health equity was another defining pillar of PERFECTO. Through its Health Mediation Assessment, the project examined how structural barriers, social determinants of health, health literacy, trust in healthcare systems and continuity of care influence access to paediatric FH screening, diagnosis and follow-up.

Drawing on evidence from Romania, Cyprus and examples from across Europe, PERFECTO explored how community-based health mediation can improve participation in screening programmes, particularly among underserved and marginalised populations. These findings highlighted that equitable screening cannot rely solely on clinical recommendations. Successful implementation also requires trusted local engagement, culturally appropriate communication and healthcare systems capable of reaching those who are too often left behind. By linking these findings with both the PCM and the sROI model, PERFECTO reinforced the importance of addressing health equity and prevention together as part of effective public health implementation.

 Turning evidence into action

Throughout the project, PERFECTO focused on producing practical outputs that can continue supporting implementation after the project’s completion.

Among its major achievements were:

Together, these achievements provide a strong foundation for countries wishing to develop or expand paediatric FH screening programmes.

A closing event focused on Europe’s next steps

Rather than marking only the end of the project, the PERFECTO Closing Event, held on 27–28 April 2026 in Brussels under the auspices of the Cyprus Presidency of the Council of the European Union, looked firmly towards the future. The event brought together more than 270 participants from 69 countries, including policymakers, researchers, clinicians, patient organisations and representatives of European institutions.

Across two days of discussions, participants explored how the project’s evidence and tools can support further action on paediatric FH screening throughout Europe. Sessions highlighted the project’s scientific achievements while addressing broader themes including personalised communication, health equity, health economics, patient engagement and policy development. Importantly, the meeting reinforced that Europe already possesses much of the scientific knowledge needed to improve early detection of inherited lipid disorders. The next challenge is implementation — translating evidence into sustainable national policies, integrated care pathways and equitable access to screening.

Contributing to European policy discussions

One of PERFECTO’s important achievements has been helping to strengthen the visibility of paediatric FH screening within the European cardiovascular prevention agenda. Throughout the project, partners engaged with policymakers, clinicians, researchers, patient organisations and public health experts to show that successful implementation requires coordinated action across multiple sectors. A major policy milestone was the explicit reference to both Familial Hypercholesterolaemia and PERFECTO within the Safe Hearts Plan, reflecting the growing recognition of inherited lipid disorders and paediatric screening within Europe’s evolving cardiovascular health strategy. The project has also contributed to broader discussions around prevention, citizen engagement, health equity and personalised healthcare, helping support a shift from treating cardiovascular disease to preventing it before it develops. A lasting legacy

Although PERFECTO has formally concluded, its impact and relevance will continue.

The communication tools, scientific evidence, policy recommendations and collaborative networks developed through the project can continue supporting advocacy, implementation and future European initiatives focused on inherited lipid disorders and cardiovascular prevention. PERFECTO has shown that effective paediatric screening is about much more than measuring cholesterol. It is about empowering families, reducing inequalities, strengthening prevention, supporting informed decision-making and ensuring that every child has the opportunity to benefit from early diagnosis and lifelong cardiovascular health.

Perhaps most importantly, the project has reinforced that preventing premature cardiovascular disease begins long before symptoms appear. By combining scientific evidence, health economics, personalised communication, health equity, patient leadership and policy engagement, PERFECTO has laid important foundations for the future implementation of paediatric FH screening across Europe. Its legacy extends beyond Familial Hypercholesterolaemia. The principles developed through PERFECTO — early detection, personalised prevention, meaningful patient engagement, health equity and evidence-informed policymaking — can inform future approaches to other non-communicable diseases.

As highlighted throughout the project, the challenge is no longer simply generating evidence. It is ensuring that this evidence reaches policymakers, healthcare professionals and communities, and is translated into sustainable screening programmes that improve lives. FH Europe Foundation warmly thanks all PERFECTO partners, experts, patient ambassadors, healthcare professionals, policymakers and stakeholders who contributed to this remarkable journey.

 

The project may have reached its conclusion, but the mission remains unchanged: Prevent the Preventable.

https://perfecto-fh.eu/ 

The Lp(a) International Task Force (ITF) and FH Europe Foundation (FHEF) were delighted to participate in Lp(a) Update 2026 organised by the German Society for Lipidology (DGFL – Lipid-Liga). The event took place in Munich, on 26 and 27 June, 2026. Bringing together leading national and international experts, the two-day meeting provided an outstanding platform for scientific exchange, collaboration and implementation, focusing on the latest developments in Lp(a) testing, risk assessment, imaging, prevention, lipoprotein apheresis and emerging therapies.

A Strong Partnership for National Implementation

One of the most significant outcomes of the meeting was the strengthening of collaboration between the Lp(a) International Task Force and the DGFL. As Germany prepares to further integrate Lp(a) into cardiovascular prevention, this partnership reflects a shared ambition to move beyond scientific evidence towards practical implementation.

The meeting brought together clinicians, researchers, health economists, policymakers, implementation experts and people with lived experience, creating a unique opportunity to discuss how evidence can be translated into routine clinical practice and national prevention strategies.

For the Lp(a) International Task Force, this represents exactly the type of collaboration envisioned when the initiative was established—to bring international expertise together with national leadership, supporting countries in developing their own pathways towards earlier detection and better cardiovascular health.

Beginning with People

The congress opened in an unconventional—but powerful—way.

Instead of starting with epidemiology, laboratory science or emerging therapies, the opening session focused on people.

Moderated by Magdalena Daccord, FH Europe Foundation Ambassadors Tobias Silberzahn (Germany) and Corinna Zangerl-Falkeis (Austria) shared two very different journeys with elevated Lp(a). Their conversation, moving naturally between English and German, combined scientific discussion with authentic personal experiences and even moments of humour, creating an engaging and memorable start to the congress.

Tobias described how, despite being healthy, physically active and passionate about prevention, he only discovered his elevated Lp(a) after hearing about it on a health podcast and insisting on being tested. His story highlighted the importance of health literacy, self-advocacy and, above all, early detection.

Corinna shared a contrasting journey. Despite maintaining a healthy lifestyle, she experienced serious cardiovascular disease before learning about her elevated Lp(a). Her reflections on shared decision-making, trust in her healthcare team, treatment with lipoprotein apheresis, quality of life and personalised care reminded the audience that medicine is about caring for the individual—not simply treating a disease.

Together, their stories reinforced one important message:

Earlier detection creates opportunities and choices.

The session also illustrated why the FH Europe Foundation established its Ambassador Programme and why the Lp(a) International Task Force continues to bring together scientists, clinicians, policymakers, implementation experts and people with lived experience. Science provides the evidence; people help ensure that evidence reaches clinical practice.

Scientific Highlights

The scientific programme reflected the remarkable progress being made in the field of Lp(a).

A keynote lecture by Prof. Pia Kamstrup provided a clear and practical overview of why Lp(a) should be measured at least once in a lifetime, demonstrating how a single measurement can improve cardiovascular risk assessment long before disease develops. Particularly reassuring was the presentation of new research demonstrating no association between elevated Lp(a) and dementia, addressing an important concern frequently raised by both healthcare professionals and the public.

Members of the Lp(a) International Task Force also made significant contributions throughout the meeting.

Prof. Florian Kronenberg outlined the implementation priorities of the Brussels International Declaration on Lp(a), emphasising that the challenge is no longer generating evidence but translating existing knowledge into healthcare policy and routine clinical practice.

Prof. Zanfina Ademi presented compelling health economic evidence demonstrating that one-time Lp(a) testing is not only clinically valuable but also represents a cost-effective strategy for preventing cardiovascular disease, including within the German healthcare setting.

Prof. Albert Wiegman reinforced the importance of identifying elevated Lp(a) early in life, particularly alongside familial hypercholesterolaemia (FH) screening, creating opportunities for family-based prevention across generations.

Across both days, one message emerged consistently:

The evidence is now sufficiently strong to support broader implementation of one-time Lp(a) testing as part of cardiovascular prevention.

With the forthcoming Council Recommendation on Cardiovascular Health Checks, the Safe Hearts Plan, and increasing political attention to cardiovascular health across Europe, Germany is well positioned to become a leader in integrating Lp(a) into routine prevention strategies.

Building Partnerships Across the German Lipid Community

Beyond the scientific sessions, Lp(a) Update 2026 offered a rare and valuable opportunity to connect directly with the wider German lipid community.

The meeting brought together cardiologists, lipidologists, specialist nurses, researchers, representatives from the pharmaceutical industry, lipoprotein apheresis providers and medical technology companies, creating an ideal environment for collaboration and knowledge exchange.

For the FH Europe Foundation and the Lp(a) International Task Force, these conversations provided valuable insights into the German healthcare landscape and the opportunities and challenges associated with implementing routine Lp(a) testing.

The broader programme also highlighted the interconnected nature of inherited lipid disorders, with discussions extending beyond Lp(a) to include familial hypercholesterolaemia (FH), homozygous familial hypercholesterolaemia (HoFH)and familial chylomicronaemia syndrome (FCS). This broader perspective reinforced the importance of integrated approaches to lipid disorders and highlighted opportunities for collaboration across disease areas.

Another valuable aspect of the meeting was the opportunity to explore patient education initiatives already developed in Germany. Collecting examples of local patient information materials, educational resources and awareness campaigns will provide inspiration for future activities of the FH Europe Foundation Ambassador Programme and support the development of national implementation initiatives through the Lp(a) International Task Force.

Looking Ahead

Lp(a) Update 2026 demonstrated that successful implementation is built on more than strong scientific evidence. It requires partnerships, shared learning, trust and a common commitment to improving cardiovascular health.

The strengthened collaboration between the DGFL, FH Europe Foundation and the Lp(a) International Task Force represents an important step towards supporting Germany's ambitions in cardiovascular prevention. As Europe moves forward with the Safe Hearts Plan and the forthcoming Council Recommendation on Cardiovascular Health Checks, there is a unique opportunity to ensure that one-time Lp(a) testing becomes an integral component of routine cardiovascular risk assessment.

The FH Europe Foundation and the Lp(a) International Task Force extend their sincere thanks to the DGFL – Lipid-Liga, all speakers, industry partners and participants for their warm welcome, inspiring discussions and commitment to advancing cardiovascular prevention through collaboration, science and implementation.

Munich reminded us that while science generates the evidence, implementation happens through people and partnerships.

For more information visit https://www.lipid-liga.de/lpa-update-am-26-27-juni-2026-in-muenchen/ with the official press release for the event.

From Evidence to Impact: FH Europe Foundation Brings the Voice of Patients to the Global HTA Community

Health Technology Assessment (HTA) may sound like a highly technical discipline, but its influence reaches far beyond academic reports and economic models. Every day, HTA helps determine which medicines, diagnostics, screening programmes and healthcare services become available to people. In many ways, it shapes the healthcare systems we all rely on.

This year, FH Europe Foundation was proud to participate in the HTAi 2026 Annual Meeting in Istanbul for the very first time. Held under the inspiring theme "HTA as a System Shaper", the meeting brought together policymakers, researchers, health economists, clinicians, industry representatives, patients and citizens from across the world to explore how evidence can be transformed into better health systems.

For FH Europe Foundation, this represented an important milestone. As our work increasingly focuses not only on raising awareness of inherited lipid disorders but also on supporting implementation of cardiovascular prevention strategies, engaging with the global HTA community has become essential.

HTA: More Than Assessing Technologies

The conference highlighted a profound shift taking place within HTA.

Rather than focusing solely on evaluating individual technologies, HTA is increasingly recognised as a strategic tool for shaping health systems themselves. Discussions throughout the meeting centred on how evidence can support prevention, improve equity, strengthen public trust, accelerate innovation, and ultimately create more sustainable healthcare.

The three plenary sessions reflected this evolution:

Across workshops, scientific sessions and discussions, one message emerged repeatedly: health systems cannot be transformed without meaningful involvement of the people they are designed to serve.

Demonstrating a New Model Through the Lp(a) International Task Force

One of the highlights of the meeting was the presentation by FH Europe Foundation and the Lp(a) International Task Force, showcasing how a truly multistakeholder approach can accelerate implementation.

Rather than focusing solely on elevated Lipoprotein(a), the session presented a broader model of collaboration—one where:

Over the past two years, this collaborative approach has transformed elevated Lp(a) from a largely overlooked inherited cardiovascular risk factor into an increasingly recognised public health priority.

Together with clinicians, researchers, health economists, patient leaders, policymakers and implementation experts, the initiative has delivered important milestones, including:

Importantly, participants recognised that this model extends well beyond Lp(a). It offers a practical blueprint for many health challenges where prevention, early detection, evidence generation and implementation must work together.

Putting the Human Being Back at the Centre

Among the most powerful moments of the meeting was the contribution of Marc Rijken, FH Europe Foundation Ambassador and patient advocate, who reminded participants that behind every assessment, reimbursement decision and policy recommendation is a person, a family and a life that may be profoundly affected.

Throughout the conference, speakers repeatedly returned to the importance of trust, relationships and co-creation.

As Jennifer Goldsack, CEO of the Digital Medicine Society and herself living with stage IV colon cancer, explained during the opening plenary, even highly educated and well-connected patients can struggle to navigate complex health systems. Her story reinforced an important message echoed across the meeting: healthcare systems must become easier to navigate, more responsive and genuinely centred on people's needs.

Learning Across the Global HTA Community

Beyond our own session, HTAi 2026 offered a valuable opportunity to learn from colleagues working across many different health systems and disciplines.

Topics ranged from methodological innovation and health economics to digital health, artificial intelligence, sustainability, equity and stakeholder engagement.

We were also delighted to see the launch of the second edition of Patient Involvement in Health Technology Assessment, an open-access resource edited by Karen Facey, Ann Single and Anke-Peggy Holtorf. Bringing together contributions from more than 120 experts worldwide, the publication reflects the remarkable progress made in embedding patient and citizen involvement within HTA and serves as a valuable practical resource for patient organisations, researchers and policymakers alike.

The meeting also provided an excellent opportunity to reconnect with many longstanding collaborators and friends working across cardiovascular prevention, rare diseases and patient advocacy.

Looking Ahead

Participation in HTAi 2026 reinforced something that has become increasingly clear for FH Europe Foundation.

Building better healthcare is no longer only about generating scientific evidence. It is about creating partnerships capable of translating that evidence into policy, implementation and real improvements in people's lives.

As Europe advances the Safe Hearts Plan and countries continue strengthening cardiovascular prevention strategies, patient organisations have an essential role—not simply as advocates for access, but as partners in shaping health systems themselves.

Our experience in Istanbul demonstrated that when patients, clinicians, researchers, economists and policymakers work together around a shared purpose, evidence becomes action—and action has the power to save lives.

We are grateful to everyone who contributed to this important conversation and look forward to building on the many new partnerships established during HTAi 2026 as we continue working towards more equitable, prevention-focused and person-centred healthcare systems.