Medical experts and patient advocates recommend screening, genetic testing and patient-centred treatment plans for genetic form of high cholesterol known as familial hypercholesterolaemia (FH).

Amsterdam, July 20, 2023 -- New guidance from medical experts at the International Atherosclerosis Society, in collaboration with patient advocates, presents new clinical and implementation strategies for treating the 35 million people worldwide living with familial hypercholesterolaemia, a genetic form of high cholesterol commonly known as FH. The guidance, published on June 15 in the top-rated scientific journal Nature Reviews Cardiology, includes strategies for addressing FH, including its severe form homozygous FH (HoFH).

The guidance identifies several critical elements of FH care:

Screening achieves early detection of FH, and applying a person-centred, multidisciplinary approach can help clinicians and patients manage FH. Heart disease leading to serious cases of FH can start early in life, even in childhood, so integrating different screening strategies and training all health care providers is essential. Identification and management of FH can ultimately prevent cardiovascular disease onset and help drive population-based cardiovascular health.

Genetic testing should be made universally available, and practices should be aligned, standardized, and integrated with both local legislation and policy and the broader health care community. Genetic testing is the most accurate way to diagnose FH, but such practices are currently expensive and not readily available. This guidance recommends increasing awareness of counselling, genomics and screening of relatives for FH.

Treatment plans should be patient-centred, focus on risk-reduction practices, improve quality of life and start as early as possible. They should also include guideline-directed strategies from peers and the wider health care community. Clinical trials and studies show that managing lifestyle and beginning cholesterol-lowering treatment at an early age maximally reduces the burden of FH.

To increase availability of lipoprotein apheresis, this guidance recommends centralized units, communication channels and a wider community within which to share expertise on apheresis. Lipoprotein apheresis by absorption is safe and effective, but it is not universally available or used. Infrastructure to make apheresis more widely available is required to treat patients with HoFH, the severest and less common form of FH.

The International Atherosclerosis Society's initiative to update the procedures and model of care for FH is in response to an international need for more comprehensive treatment strategies. It is also one of very  few guidance in the space of FH, which proactively engages patients and patient advocates to reflects their needs and recommendations.

Statement from Peter Libby, MD, President, International Atherosclerosis Society and Co-author:

"FH, a relatively common condition, is widely underdiagnosed and undertreated. To address this gap, IAS assembled an expert team to generate guidance for practical implementation of best practices in the care of those with FH. This document deals with the scope of the problem, the detection of FH, practical and evidence–based management recommendations, and strategies for the implementation of care. It aims to be of general use to the broader cardiovascular and primary care community. This publication represents an international cooperation under the auspices of the IAS, and advances our mission of reducing atherosclerotic cardiovascular disease worldwide."

Statement from Magdalena Daccord, Chief Executive of FH Europe Foundation and Co-author:

"This is a landmark publication for people living with FH and those providing medical care for them. It brings together world medical experts and patient advocates to produce a very comprehensive document, which is person-centric, with patient/person voice embedded in the content and in the implementation strategies. It goes beyond being a medical guideline, however, as it serves as credible support for advocacy and policy influencing activities which will help us all move from cardiovascular disease towards cardiovascular health in people with FH and HoFH."

Statement from Raul Santos, MD, Co-Chair of the guidance and Past President, International Atherosclerosis Society:

"FH, which is frequent and untreated, is associated with very high risk of atherosclerosis and coronary artery disease. It should be diagnosed and managed from an early age. This IAS document provides the best evidence-informed clinical and implementation strategies for the cost-effective care of all patients with the condition. The guidance was developed by a team of leading experts and aims to achieve the greatest good for the greatest number of people with FH across all regions of the world."

Statement from Gerald F. Watts, MD, Co-chair and corresponding author of the guidance:

"FH is a preventable cause of premature disease and death due to coronary heart disease, with substantial effects on public health. This IAS guidance addresses major gaps in the care of FH and uniquely employs implementation science to better translate evidence into practice. This should result in maximal benefit for people and communities. Because of differences among countries, a contextual approach will be required for implementing the recommendations."

To make the best use of this new guidance, there must be a push towards adapting and integrating these practices into health care systems, policies and wider communities built on advocacy, and peer-related support.

Read the IAS guidance for implementing best practice in the care of FH here.

The International Atherosclerosis Society is a federation of member organizations worldwide whose basic missions are to promote the scientific understanding of the etiology, prevention and treatment of atherosclerosis. The IAS exists to coordinate the exchange of scientific information among the constituent societies, to foster research into the development of atherosclerosis, and to help translate this knowledge into improving the effectiveness of programs designed to prevent and treat this disease.

ELSIE EVANS

Meet Elsie Evans, known to her friends and family as Cindy. Elsie is a dedicated teacher, working in schools for special needs children. She is also FH Europe´s Ambassador Program Manager, a volunteer at HEART UK, a technology enthusiatst, loves to travel and is a great coffee lover. She is also rare disease advocate and patient living with HoFH.

She was diagnosed with the rare and severe form of inherited high cholesterol in her early childhood, when she was three and a half.  Ever since, it has been a challenging journey with healthcare, but new treatments are improving the situation.  A new medication trial has been a game-changer for her, and she is passionate about educating others about the condition. Volunteering with HEART UK and being involved with FH Europe, she hopes to create a community where patients can support each other and improve their well-being.

This is her story:

"Hello, my name is Elsie Evans, known to my friends and family as Cindy. I was born in South Africa, but have been living in the UK since 2000.

I have been in the education field for over two decades now, serving as a special education teacher in secondary schools for most of that time. Presently, I am an assistant headteacher in a primary school for special needs children. At 47, I have gained quite a bit of experience working with children with Autism Spectrum Disorder, and I find it very fulfilling. One of my most memorable experiences was leading my students on a special ski trip to Italy as part of the Surrey Special Ski initiative.

I was born in South Africa, where I received a diagnosis at the age of three. A GP was removing skin warts when he observed that they were not going away and referred me to a lipid specialist, Prof. Harry Seftel. When I was checked, my cholesterol level was 27. Mom was informed I wouldn't live past the age of 11, and there's no current treatment (more than 40 years ago).  I was given Questran and assigned to the Johannesburg research department. I was far too little to remember most of this, so it was up to my mother to cope with it all.  She did it with the fearlessness of a lioness (other animals available: D), regardless of knowing that they had advised her that my prognosis was poor.  I recall visits to the hospital, we would be there for an entire day, but she always came equipped with activities to keep me occupied.

I recollect going to parties with my personalised party pack.  I think about battling with school when I required time off as they didn't understand that I didn't look sick.  I recognise still accomplishing everything I set my mind to because I had the encouragement of my family.  I recall being frustrated when I couldn't do certain things. I know as a teenager I protesting against medication, as everyone does (anyone who has ever taken Questran would understand).  So there were a lot of hospital visits, blood tests, medication administered, and new treatment news highs and lows when they did not work or were not made available.

Thanks to a new medication, I no longer need weekly apheresis, which has made travelling and working much easier. To avoid any side effects and prevent liver conditions related to the medication, I have to follow a strict low-fat diet. While this can be challenging, I have become skilled at managing it over the past few years. I stay active by taking regular walks and having routine check-ups with my medical team every three months to monitor my levels and cardiac health. Recently, I realized I need to start planning for my retirement, which made me feel like a responsible adult. As we continue to explore more treatment options, I hope that healthcare providers will consider our overall well-being as patients.

My journey in advocacy began with my mother's passion for finding and fighting for better accessible treatments. She has been doing this for more than 40 years, and it's an impressive feat. My journey was a passenger but that changed when I was approached with a new treatment and decided to give it a try. It was a great decision and led me down a path of sharing my story and becoming involved in advocacy work. I am now working with FH Europe to help educate ambassadors about the conditions we advocate for and how to work with various stakeholders. I believe that to make a difference, we need to have a strong understanding of what we are advocating for and how to effectively communicate our message to others. By building our knowledge and understanding, we can work together to make a positive impact not just for ourselves, but for our wider community as well.

For several years, I had kept my life in separate boxes until I was introduced to a new treatment. As a result, I was asked to share my story which marked the beginning of my journey towards managing my condition, stopping weekly apheresis and getting back to things I love doing, also on a personal talking to others and actively being involved with this community.   I strongly believe that we can achieve our goals only if we work together as a team and gain a better understanding of how different aspects of our lives affect our community as a whole and understand that each will have their journey and story to tell.

Some of the biggest struggles I have faced is not looking sick.  It can be incredibly challenging to deal with an invisible illness. People around you may not fully understand the extent of your condition, and it can be difficult to explain it to them.  Sometimes, it can be tempting to pretend that you are not dealing with a serious medical condition when others cannot see it.  It became reality when suddenly I had more cardiac events, needing angiograms and stents, weekly apheresis, etc on top I then had to have more conversations with people around me, friends, and managers at work.

This was one of my biggest hurdles to overcome.  I find it difficult to cope with slowing down and being a patient, but my physical limitations have made it necessary. Ageing is a natural process that affects everyone, including those with underlying conditions. However, it has brought to light some issues that could have been prevented with better management.  The use of apheresis is restricted, medications are costly, and research and development tend to prioritise care after an event instead of preventative measures such as early screening to minimize harm.

It's incredible to see how rapidly things are changing. There is ongoing research into new treatments, and in the last six years, there have been more breakthroughs than I have witnessed in my lifetime. This gives me hope that future generations will have more support and be able to manage their conditions without it greatly affecting their daily lives. I anticipate seeing how personalised treatments evolve into practical approaches that prioritise the quality, rather than just the quantity, of life.  I look forward to a future where there won't be a need to advocate or share our stories. However, until then, we will still be here to support and advocate for those around us. I have a positive outlook on the future and intend to consistently show kindness to those in my life. I am eager to experience all that life has to offer, from travelling to new places to meeting new individuals and hearing their fascinating stories."

Across Europe, more than 30 million people live with a rare disease. For many, the challenges extend far beyond physical symptoms—impacting emotional well-being, family life, and everyday resilience. A recent EURORDIS Rare Barometer survey shines a spotlight on an often-overlooked reality: the mental health burden within the rare disease community.

What the data tells us:

Between September and December 2025, nearly 9,900 people living with a rare disease, along with family members, shared their experiences. The findings are clear and concerning:
See the factsheet here.
These are not isolated experiences—they point to a systemic issue. Mental health challenges are deeply intertwined with living with a rare condition, yet they are often under-recognised in care pathways and policy frameworks.
At FH Europe Foundation, we know that living with inherited lipid conditions is about more than managing lipid levels. It can bring uncertainty, fear, and long-term stress, and this is specifically true for our FCS and HoFH communities, where social stigma, lack of awareness, and the chronic day-to-day of living with these conditions impact daily life—for both individuals and families. During our Annual Meeting in 2025, we had sessions for our participants specifically focused on Mental Health and resilience (see here the presentation by Matthew Bolz-Johnson: There is no health without mental health (Matthew Bolz-Johnson)), and we continue to build on this with our 2026 HoFH Awareness Day trilogy (HoFH Awareness Day - FH Europe Foundation).
As someone living with HoFH, I know that the emotional burden of a rare condition can be just as challenging as the physical one. Too many people in our community feel isolated, unheard or unsupported. Mental health must not be treated as an optional extra—it is an essential part of quality care. We need healthcare systems that care for the whole person, not just the condition. Elsie Evans, FH Europe Foundation
This new evidence reinforces what many in our community already feel: mental health support must be a core part of care, not an afterthought.
Whether it’s navigating diagnosis, lifelong treatment, or the impact on family members, psychological support plays a vital role in improving quality of life.
Bridging the gap: from awareness to action. The Rare Barometer findings call for urgent change.

Key priorities include:

For organisations like FHEF, this is an opportunity to strengthen advocacy efforts and ensure mental wellbeing is embedded in all aspects of care and support.
Improving mental health outcomes requires collaboration—between healthcare professionals, policymakers, patient organisations, and communities. By working together, we can help create a future where people living with severe lipid conditions receive truly holistic care. We remain committed to amplifying patient voices and championing care that supports the whole person—both physical and mental health.
Learn more and explore the findings:
Visit the EURORDIS resource and access the full results and materials in different languages: Improve Our Mental Health! - EURORDIS-Rare Diseases Europe
Learn more about FHEF recent involvement in Rare Diseases:
- FHEF Is Part Of The European Regional Task Force On Rare Diseases - FH Europe Foundation
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.