Reflections from Elsie Evans, Patient Ambassador representing the FH Europe Foundation community
On 26–27 October 2026, specialists, researchers, regulators, industry representatives, journal editors and patient advocates came together at the MOSAIC NASH forum in Washington, DC. The aim was to explore how research can better reflect the connections between cardiovascular, kidney, liver and metabolic health, known collectively as CKLM. I attended as a Patient Ambassador representing FH Europe Foundation and co-chaired the Patients, Trial Participants and Patients’ Advocates Forum with Henry Chang from the Fatty Liver Foundation. Although the science was complex, the question I carried throughout the meeting was simple: Will this progress help people live longer, healthier and better lives?

Understanding the conditions being discussed

MASLD, or metabolic dysfunction-associated steatotic liver disease, happens when excess fat builds up in the liver alongside wider metabolic risk factors.
MASH, or metabolic dysfunction-associated steatohepatitis, is a more serious form of MASLD. It involves liver inflammation and damage and can lead to liver scarring, known as fibrosis.
However, these conditions do not exist in isolation. They are closely connected with cardiovascular disease, kidney disease, diabetes, weight and wider metabolic health. MOSAiC therefore focused on how clinical research can move beyond examining one organ at a time. This closely connects with the experience of the FH Europe Foundation community. People living with familial hypercholesterolaemia, homozygous familial hypercholesterolaemia, familial chylomicronaemia syndrome or elevated lipoprotein(a) are not simply managing a cholesterol or triglyceride result. We often have to deal with liver concerns due to condition or treatments, pancreatitis (FCS), etc as we are a connected being and everything we live with affects others parts of us. We are balancing cardiovascular risk, other health conditions, treatment, work, family responsibilities and uncertainty about the future.
 'People do not experience their health as separate organs, specialties or clinical measurements. They experience one life.'
Setting the scene was Jeffrey Lazarus who opened the scientific programme with an update on the global burden of CKLM disease follow by Arun Sanyal who then reviewed the current MASH and MASLD trial landscape and considered how far it has progressed towards MOSAiC’s ambition for integrated, multi-organ research. This provided important context. Research has traditionally been divided by disease and medical specialty. A liver trial may focus on liver scarring, while a cardiovascular trial measures heart attacks or strokes and a kidney trial measures changes in kidney function. These measures remain important, but they do not always show the full effect of a medicine or reflect the complete health of the person taking it.
Can one treatment benefit several areas of health? Rohit Loomba, Faiez Zannad, Arun Sanyal, Philip Newsome and Naim Alkhouri examined different treatment strategies that could potentially provide benefits across the liver, heart, kidneys and metabolism. These included incretin-based medicines, liver-directed treatments, cardiorenal medicines, FGF21-based therapies and combinations of different medicines.
In simple terms:
These approaches are promising, but the discussions also brought necessary caution. An improvement in a scan, blood test or other biological measurement does not automatically mean that people will feel better, avoid serious complications or live longer.

Risk reduction or genuine disease modification?

A major discussion chaired by Javed Butler and Jörn Schattenberg explored the difference between reducing risk and changing the course of disease. The session included perspectives from hepatology, cardiology, kidney medicine, endocrinology, industry, regulators and patients. Faiez Zannad, Jörn Schattenberg, Javed Butler, Amit Sharma and Jennifer Green considered what disease modification should mean across several interconnected areas of health. Henry Chang brought the patient viewpoint.
One message from Henry Chang, a fellow patient advocate, was particularly important: people living with MASH do not experience “histology”, meaning changes seen in liver tissue under a microscope. They experience how they feel each day and the outcomes they fear for their liver, heart and kidneys.
This challenges researchers to look beyond whether a medicine changes a laboratory result or tissue sample. We must also ask:
Better tests with less burden and so several sessions examined how clinical trials could use biomarkers, imaging and other non-invasive tests. A biomarker is a measurable sign of what is happening in the body, such as a blood result or scan finding. These tools could reduce dependence on liver biopsy, where a sample of liver tissue is removed for examination. Biopsies can provide valuable information, but they are invasive and may create additional discomfort, anxiety and participation burden. Of course we already know the importance of early detection and precision medicine from our PerMedFH, FHEARLY projects.
The discussions highlighted the need for a prioritised set of cardiovascular, kidney, liver and metabolic measurements. Kidney function measures should be included more consistently, and more advanced tests should be used when they answer a clear clinical or scientific question. For patients, the purpose must be clear. A less invasive test is welcome, but it must still provide dependable evidence about whether a treatment is safe and beneficial.
Designing trials around real life brought another important theme was the practical challenge of running one clinical trial with outcomes across several organs. Trials attempting to measure every possible major outcome could require many thousands of participants and continue for several years. Researchers therefore discussed more realistic options, including:
However, efficiency should not come at the cost of relevance or representation. Selecting only very high-risk participants may make it easier to detect results, but the findings might not apply to the wider community. Trials must also recognise the realities of participation, including travel, time away from work, caring responsibilities, costs, fatigue, language, digital access and the emotional impact of living with uncertainty.
Real-world evidence, registries and trust filled the second day where we explored real-world evidence, meaning information collected outside traditional controlled clinical trials. This may come from routine healthcare, patient registries or long-term follow-up. Javed Butler, Nancy Dreyer, Ian Neeland and Shahzeb Khan considered which outcomes matter after a medicine is approved, how real-world information can support regulatory decisions and what would be needed to build a CKLM registry.
Registries can help researchers understand longer-term safety, treatment use and outcomes in more varied communities. However, their value depends on trust. All of the patient voices chimed in as one, data is 'owned by patients' but what does that really mean. One comment 'I was told that my data has value and the one who owns the data has the power', so is it not time that we truly discuss who owns the data but more so who accesses the data.
People should receive clear information about:
Patients should help shape these arrangements before the systems are built, not simply be asked to contribute data afterwards. A great end of day question - should persons have the autonomy to add their own data to registries if they so choose.
Bringing the patient voice into the centre of the discussion was on the agenda and we made the most of it. During networking, dinner, breaks but also in the spotlight. The Patients, Trial Participants and Patients’ Advocates Forum brought together Gina Bartes, Michael Betel, Wayne Eskridge, Henry Chang, Patrick Gee, Marko Korenjak, Margaret Padilla and me.
Our discussion reinforced that research should be designed with people and around their lives.
Important priorities included:
Meaningful patient involvement is not measured by how many patients are invited into the room. It is measured by what changes because they were involved. We felt that a research team should be able to say: this is what we heard, this is what we changed, and this is what we could not change and why.
What stood out for the FH Europe Foundation community is that MASH and inherited lipid conditions are different and yet connected. Many of the questions discussed at MOSAiC are highly relevant to our community.
What happens next, as we closed the final MOSAiC sessions considered how the CKLM agenda can move from discussion into implementation. Biykem Bozkurt, Guillaume Baudry, Philip Newsome and Jennifer Taylor explored integrated frameworks, collaborative research programmes and how this work could be shared more widely. Journal editors also contributed their perspectives on communicating and publishing this developing evidence.
For the FH Europe Foundation, the next steps should include:

A final reflection

I left MOSAiC encouraged by the scientific progress, but also aware of the work still needed. Integrated research should not simply add more tests or outcomes to a trial. It should help us understand the whole person more clearly while reducing avoidable burden.
The success of CKLM research will not be measured only by whether several organs can be included in one protocol. It will be measured by whether research becomes more relevant, participation becomes more accessible, care becomes more connected and people experience better health and better lives.
People do not live one organ at a time. Our research, healthcare systems and partnerships must begin to reflect that reality.
For more information about MOSAIC NASH, its speakers and the full programme, visit the MOSAiC website.
FHchol Austria has celebrated 15 years of supporting people and families affected by familial hypercholesterolaemia (FH) and other inherited lipid conditions. The organisation was founded on 14 October 2011 by Gabriele “Gaby” Hanauer-Mader and fellow advocates. It grew from the self-help group Familial Hypercholesterolaemia in Children and Adolescents, which Gaby  established in 2004 with the support of Professor Kurt Widhalm.
Today, FHchol Austria is a welcoming patient organisation that connects people and families, provides reliable information, encourages earlier diagnosis and treatment, and represents their interests within healthcare and wider society. Its work continues to evolve to support people affected by other inherited lipid conditions, as well as FH. The anniversary was marked on 16 October 2026 at Hotel Regina in Vienna. Members, patients, families and healthcare professionals came together for the organisation’s General Assembly, specialist presentations, questions and discussion, followed by an anniversary dinner.

Fifteen years of community action

During the General Assembly, FHchol Austria reflected on its recent awareness, education and community activities. These included patient meetings, public information events, health checks and cooperation with healthcare professionals and other heart organisations. The evening also recognised people who have made an important contribution to the organisation.
Professor Kurt Widhalm, a founding figure and long-standing Chair of the Scientific Advisory Board, received honorary membership.
Monika Chocholous received the Gaby Hanauer-Mader Award 2026 in recognition of her long-standing and outstanding commitment. The award was originally Monika Chocholous’s idea following Gaby Hanauer-Mader’s death. It was created to honour Gaby’s legacy and recognise exceptional service to the community. These honours reflect the personal commitment behind FHchol Austria. Its work is shaped by people living with inherited lipid conditions, families, volunteers, healthcare professionals and supporters who contribute their knowledge, experience and time.

Key insights from the evening presentations

The specialist programme focused on the Austrian Lipid Consensus 2026 and Austria’s “Fass Dir ein Herz” FH Register. Dr Gersina Rega-Kaun, Dr Florian Höllerl and Dr Helmut Brath presented the Austrian consensus. It contains evidence-based recommendations for preventing and treating lipid-related conditions, with guidance covering children, adults and people with additional health conditions.
Several practical messages emerged from the presentations:

Learning from the Austrian FH Register

Professor Hans Dieplinger presented information from Austria’s “Fass Dir ein Herz” FH Register. The screening and register project was established by the Austrian Atherosclerosis Society in 2015, working with various stakeholders. It collects anonymised information to improve understanding of FH diagnosis, treatment and care in Austria. The meeting heard that approximately 1,627 people were included in the register. Among registered participants, around 12.7% of adults and 5% of young people were reported to be reaching their LDL cholesterol targets. These figures relate specifically to people represented in the register and should not be interpreted as estimates for everyone living with FH in Austria.
The discussion also covered how register information is protected. According to the meeting summary, participation requires written consent, identifying information remains at the participating treatment centre, and information held in the register is anonymised. This was a discussion with the participants at the meeting who wanted to understand how individuals are included in these registries and how they are used. Participation is voluntary was part of the explanation. The register helps build knowledge about FH care and identify areas where diagnosis, follow-up or treatment may need to improve, but still we miss a lot of individuals and a lot of information that can help build the bigger picture.

From awareness to earlier detection

FHchol Austria continues to find creative ways to bring information about FH into everyday life. For FH Awareness Day 2025, the organisation ran a campaign across Vienna’s public transport network. Short questions, answers and quizzes appeared every 15 minutes on information screens in buses, trams and selected underground stations during FH Week. The campaign helped explain the difference between common high cholesterol and inherited FH.
The anniversary presentations reinforced why this awareness matters. FH can affect several members of a family, yet it may not cause noticeable symptoms. Recognising a possible family pattern, having cholesterol checked and discussing the results with a healthcare professional can support earlier identification. When one person receives an FH diagnosis, cascade screening can give close relatives the opportunity to be assessed. The meeting acknowledged that this process is voluntary and should be supported by clear, sensitive information for families. By placing straightforward information in public spaces, FHchol Austria meets people where they are. These locally rooted activities can prompt questions, open family conversations and help turn awareness into appropriate testing and professional care.
 

A busy anniversary year

The anniversary meeting was part of a varied programme of information, awareness and community activities during 2026.
In February, FHchol Austria co-organised the symposium Familial Hypercholesterolaemia: Prevention Begins in the Family, held at the Billrothhaus in Vienna to mark Professor Kurt Widhalm’s 80th birthday. Its practical programme was designed for doctors and other healthcare professionals working in the prevention and treatment of lipid conditions.
The organisation also created regular opportunities for community connection. These included an in-person FH meeting at Café Museum in February and an online meeting in June featuring Dr Reinhold Innerhofer, who discussed personalised preventive medicine and the possible role of new technologies and mobile applications.
A Gaby Hanauer-Mader memorial walk took place in March, and a further in-person FH community meeting was held in September.
For FH Awareness Day on 24 September, FHchol Austria joined the Austrian Heart Fund, Austrian Heart Association, Meine Herzklappe and puls.at for a public heart-health event at Westfield Donau Zentrum. The free testing programme included measurements of total, LDL and HDL cholesterol, triglycerides, lipoprotein(a) and long-term blood glucose. Heart-valve checks and defibrillator training were also offered.
Together, these activities show the different ways in which the organisation brings people together, shares information and provides opportunities for the public to learn more about cardiovascular risk.

Working together in Austria and across Europe

FH Europe Foundation has been proud to work alongside FHchol Austria as part of its international network. This partnership was particularly visible at the 2024 FH Europe Foundation Annual Network Meeting in Vienna. Held under the theme “Together, engaged for change!”, the meeting brought together people living with inherited lipid conditions, family members, patient advocates, clinicians, researchers and other partners.
As FHchol Austria begins its next chapter, it remains committed to providing a welcoming community and trusted information for people affected by FH and other inherited lipid conditions. Its work will continue to evolve in response to the needs of patients and families, strengthening connections, supporting earlier identification and ensuring their experiences are heard.

A message from FH Europe Foundation

In a letter shared for the anniversary, Magdalena Daccord, CEO of FH Europe Foundation, described the occasion as a celebration not only of an organisation, but of the people behind it:
“Today is a celebration of far more than an anniversary. It is a celebration of people: people who chose to speak up, people who chose to care, and people who believed that, together, they could change lives.”
Having attended FHchol Austria’s tenth anniversary five years earlier, Magdalena Daccord reflected on its progress and its growing contribution to awareness, support and advocacy for people affected by FH and other inherited lipid conditions. She also recognised the organisation’s influence beyond Austria:
“Through your commitment, collaboration and generosity, you have strengthened not only the FH community in Austria, but also the wider European community.”
The letter highlighted Austria’s contribution to paediatric screening, including the work of Professor Kurt Widhalm and evidence from the Austrian paediatric registry and screening programme. This Austrian experience was brought into the European Union Public Health Best Practice framework, helping to demonstrate the importance of earlier identification and action.
At the heart of the message was the value of bringing individual voices together:
“When one voice speaks, it can inspire another. When many voices come together, they can transform systems, influence policy and save lives.”
Magdalena Daccord paid tribute to founder Gabriele “Gaby” Hanauer-Mader, whose determination helped transform a self-help group into FHchol Austria. She also thanked Anna Andrea Böhm and her team for carrying that vision forward “with warmth, resilience and unwavering commitment”.
Looking to the future, her letter acknowledged that further work remains to reach families, identify people living with FH and ensure that patient voices are heard. It closed by thanking FHchol Austria for its partnership, friendship and commitment to the FH community.
“If the past 15 years have taught us anything, it is that when passionate people come together with a shared purpose, remarkable things happen.”
Congratulations to everyone who has contributed to the organisation’s first 15 years.
Further reading
FH Europe Foundation was proud to contribute to the development of the European Blueprint for Rare Diseases through participation in the European Regional Task Force. This work represents an important opportunity to ensure that the experiences of people living with inherited lipid conditions are reflected in future European and global health policies.
While FH Europe Foundation often focuses on inherited lipid conditions within the field of cardiovascular health, many of the challenges faced by our community are shared across the wider rare disease landscape. Delayed diagnosis, unequal access to specialised care, fragmented healthcare pathways, limited treatment options, the burden on mental health, and the need for stronger patient support remain common issues across Europe and beyond.
The publication of the European Blueprint for Rare Diseases provides a roadmap for addressing these challenges through coordinated action at European, national, and global levels.

What Is the European Rare Disease Blueprint?

Led by EURORDIS-Rare Diseases Europe, the Blueprint is a community-driven framework designed to support the development of a future EU Action Plan on Rare Diseases and contribute to broader global rare disease policy discussions.  The Blueprint was developed through extensive collaboration involving:
The initiative recognises that Europe has built many important rare disease structures and programmes, including the European Reference Networks, Orphanet, and ERDERA. However, these initiatives do not always operate as a coordinated system, leading to variation in patient outcomes and access across countries.
The Blueprint therefore focuses on creating stronger connections between existing initiatives while identifying gaps that still need to be addressed.

FH Europe Foundation's Contribution

FH Europe Foundation participated in the European Regional Task Force, established by EURORDIS in collaboration with Rare Diseases International (RDI) [about the process]. The Task Force brought together patient advocates and rare disease organisations from across the WHO European Region to contribute evidence, share expertise, and develop recommendations for future action.
Through our participation, we were able to bring forward the experiences of people living with inherited lipid conditions and highlight issues that are highly relevant to our community, including:

 

Key Priorities in the Blueprint

The Blueprint proposes 18 priority actions across six major areas:

 

Learning from EUPATI: Patients as Equal Partners

Alongside our involvement in rare disease policy discussions, FH Europe Foundation has participated in patient engagement initiatives through EUPATI (European Patients' Academy on Therapeutic Innovation).
Discussions during EUPATI workshops reinforced an increasingly important principle across healthcare: Patients should not simply be consulted. They should be involved as equal partners in designing healthcare systems, research programmes, and policies.
EUPATI's work highlights the importance of:
These discussions strongly aligned with the principles underpinning the European Blueprint and reflected many of the values that FH Europe Foundation promotes through its advocacy, Ambassador programmes, and community engagement activities. For our community, this means continuing to strengthen patient leadership and ensuring that people living with inherited lipid conditions have a seat at every table where decisions are being made.

A Historic Milestone: WHO Recognises Rare Diseases as a Global Health Priority

In May 2025, the World Health Organization (WHO) adopted the landmark resolution"Rare Diseases: a Global Health Priority for Equity and Inclusion" (WHA78.11). This marked the first time rare diseases were formally recognised as a global health priority by Member States.
The resolution recognises that:
The WHO resolution calls on countries to:
For the FH community, this recognition represents an important step towards ensuring that people affected by inherited lipid conditions are not left behind in future healthcare planning.

The Next Phase: WHO's 10-Year Global Action Plan

Perhaps the most significant outcome of the WHO resolution is the commitment to develop a 10-year Global Action Plan on Rare Diseases.
According to WHO's published roadmap:
2026
2027
2028
Importantly, the European Blueprint was intentionally designed to help inform Europe's contribution to this future Global Action Plan.
This means the work undertaken by EURORDIS, the European Regional Task Force, and participating organisations such as FH Europe Foundation has the potential to influence rare disease policy far beyond Europe.

Rare Disease Momentum Is Growing Globally

The rare disease agenda is advancing not only in Europe but around the world.
In the United States, the FDA Rare Disease Innovation Hub was established to improve coordination across the FDA and strengthen support for the development of treatments for people living with rare diseases. Its strategic agenda includes improving regulatory science, fostering collaboration, and strengthening engagement with patient communities.
More recently, the FDA launched the Rare Disease Framework Initiative, which aims to create a more tailored and flexible approach to rare disease drug development that reflects the realities of small patient populations and unmet medical needs.
These developments demonstrate that rare diseases are increasingly being recognised as a priority area within global healthcare and regulatory systems.

National Plans Are Driving Change

The Blueprint also builds on lessons learned from national rare disease strategies.

United Kingdom

The UK Rare Diseases Framework, launched in 2021, outlines four priorities:
The latest England Rare Diseases Action Plan 2026 continues this work and includes actions focused on reducing health inequalities and improving equity for people living with rare diseases.

France

France remains one of Europe's longest-standing leaders in rare disease policy through its national plans. Its fourth plan, PNMR4, includes:
These examples demonstrate how coordinated strategies can drive tangible improvements for rare disease communities.

Why This Matters for FH Europe Foundation

The European Rare Disease Blueprint represents far more than a policy document.
It reflects a growing recognition that people living with rare diseases must be partners in decisions that affect their lives. It reinforces the importance of early diagnosis, specialist care, patient education, research, social inclusion, and equitable access to innovation.
These are principles that closely align with FH Europe Foundation's mission and ongoing work across Europe.
Through our involvement in the European Regional Task Force, participation in initiatives focused on patient engagement, and our continued commitment to empowering people living with inherited lipid conditions, we are proud to contribute to shaping the future of rare disease policy.
As Europe moves towards a future EU Action Plan on Rare Diseases and the WHO develops its Global Action Plan, it will be essential that patients and families remain at the centre of these conversations.
Because meaningful progress happens when those living with a condition help shape the solutions.

Further Reading

WHO
Rare Diseases International

France’s new 2026–2030 roadmap strengthens the national commitment to cardiovascular prevention, alongside a significant legal milestone: childhood screening explicitly including familial hypercholesterolaemia (FH).

Announced on 14 October 2026, the roadmap aims to prevent cardiovascular and cerebrovascular diseases, identify risk factors earlier and improve support for people most at risk.

According to the French Ministry of Health, these diseases are the leading cause of death in Europe and the second leading cause in France. Although mortality has fallen through advances in treatment, care and prevention, the number of people affected continues to rise, driven partly by population ageing and exposure to cardiovascular risk factors.

The ministry highlights that more than 70% of premature cardiovascular and cerebrovascular diseases worldwide are associated with modifiable factors, including social and environmental conditions, behaviours and metabolic risk factors. Addressing these often overlapping factors creates opportunities to prevent disease and reduce risk.

Four priorities, 36 practical actions

Developed through consultation with healthcare professionals, patient associations and local stakeholders, the roadmap contains 36 operational actions organised around four priorities:

Priority Focus
1. Promote cardiovascular health Raise awareness among the public and relevant organisations and professionals.
2. Strengthen early identification Mobilise primary care professionals to identify risk factors and assess cardiovascular risk.
3. Improve comprehensive care Expand support to manage risk factors, particularly for people at high cardiovascular risk.
4. Strengthen evidence and evaluation Improve knowledge, monitoring and evaluation of preventive interventions.

Practical measures include developing a communication strategy for the public and healthcare professionals; promoting “Mon Bilan Prévention”, France’s preventive health assessment programme; harmonising blood pressure measurement, control and monitoring; mobilising resources to review cardiovascular risk treatments in frail older people; and establishing a preventive care pathway to support earlier intervention.

The central message from Health Minister Stéphanie Rist is clear: cardiovascular prevention must become a public health priority, with earlier action and access to appropriate support throughout France. The roadmap also positions prevention as a means of reducing health inequalities.

It aligns with the EU’s Safe Hearts Plan, published on 16 December 2025, connecting European ambition with national action.

Childhood FH screening is already enshrined in law

The roadmap follows Law No. 2026-668 of 27 July 2026, which establishes a national strategy for cardiovascular and cerebrovascular prevention, screening and care.

For families affected by FH, the law contains a particularly significant provision. Article 1 introduced Article L2132-2-3 into the Public Health Code, providing for an early screening appointment for cardiovascular and cerebrovascular diseases, specifically including FH, during the year following a child’s sixth birthday.

The appointment must be conducted by a specially trained doctor, who records either completion of screening or parental refusal in the child’s health record. This provision has been in force since 29 July 2026.

FH is an inherited lipid disorder characterised by elevated LDL cholesterol from birth. Its inclusion recognises the importance of detecting inherited cardiovascular risk early, alongside addressing modifiable risk factors.

The law also strengthens preventive assessments for adults, takes account of women’s specific cardiovascular risks, expands blood pressure measurement by pharmacists and physiotherapists, and reinforces prevention in workplaces and schools.

Recognising ANHET.f and the contribution of patient advocacy

FH Europe Foundation warmly recognises ANHET.f—the Association Nationale des Hypercholestérolémies familiales et Lipoprotéines (a)—for its sustained advocacy for early detection and its support for patients and families in France.

Its contribution is documented in the French National Authority for Health’s work. In September 2024, ANHET.f and 13 scientific societies alerted the authority to gaps in childhood cholesterol detection and early care, requesting an assessment of universal paediatric FH screening.

From national commitment to accessible prevention

For FH Europe Foundation, the roadmap and the law together represent an encouraging step towards earlier detection, coordinated care and greater equity in cardiovascular health.

Although the 14 October press release does not explicitly mention FH, Lp(a), lipid testing or childhood screening, the underpinning law clearly includes childhood FH screening. Sadly Lp(a) is not explicitly named in the final legislative text.

The next challenge is implementation: ensuring that families can access screening, that professionals have the necessary training and that detection leads to appropriate referral and sustained care. The legal commitment is an important milestone; its success will be measured in the children and families who benefit.

References