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.
