The FH Europe Foundation (FHEF), the international network of over 30 patient organisations, dedicated to supporting individuals and families affected by familial lipid disorders, has issued an urgent statement to the Federal Joint Committee (G-BA) in response to the decision on ANGPTL3 inhibitor (Evinacumab) for patients with homozygous familial hypercholesterolaemia (HoFH) aged 12 years and older in Germany.
The G-BA is the highest decision-making body of the joint self-government of physicians, dentists, hospitals and health insurance funds in Germany. It issues directives for the benefit catalogue of the statutory health insurance funds (GKV) for more than 74 million insured persons and thus specifies which services in medical care are reimbursed by the GKV. The G-BA conducts also benefit assessment of medicinal products, where it puts every new active pharmaceutical ingredient through an early benefit assessment within six months after it is launched on the German market. During the early benefit assessment, the G-BA examines whether the drug is really something new: if it offers patients greater benefit than comparable treatments that are already available. Click here for more information.
The FHEF statement has been prepared in collaboration with international HoFH patient ambassadors and health care and policy experts and endorsed by the leading scientific society – the European Atherosclerosis Society (EAS). It emphasizes the importance of considering the underlying genetic causes of the disorder and the latest available scientific evidence, while recognising the burden of the disease and the patient lived experiences in health decisions in Germany. The statement underscores the need for personalized care and the recognition of patient safety and health economic arguments in the treatment of HoFH.
Read the statement here.
HoFH is an exceptionally severe and rare form of FH. This genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol due to mutations in specific genes from birth. This condition significantly increases the risk of premature cardiovascular diseases, including atherosclerosis, heart attacks, and early death. Understanding the genetic underpinnings of HoFH is crucial. HoFH results from mutations in genes critical for LDL cholesterol metabolism. Targeted treatments that directly address the genetic cause of the disorder, providing more effective management than traditional therapies. In other words, traditional therapies often fall short in managing this condition, leaving patients with limited and less effective options.
HoFH is not just a medical condition; it deeply affects the daily lives and well-being of patients and their families. The disorder leads to physical disability, social exclusion, and significant psychological stress. Along with strict dietary restrictions, patients with HoFH endure frequent and invasive medical treatments like apheresis (if available) and face economic challenges due to the demanding nature of their care. The need for effective, targeted treatment options is vital to alleviate these burdens and to offer quality of life.
Read the story of Elsie Evans, a person living with HoFH here
Patient stories, like the one of Elsie’s, underscores the importance of quality of life beyond mere treatment. Elsie is not just a patient; she is professional advocate, a teacher, a coffee lover, and a traveller. Through her involvement with organisation like FH Europe Foundation, she aims to create a supportive community where patients uplift each other and improve their well-being. Elsie’s story reminds us that resilience, hope, and scientific progress can transform lives—even in the face of daunting challenges.
The treatment of HoFH necessitates precision medicine, which tailors medical treatment to the individual characteristics of each patient, taking into considerations their genetic mutations as well as sex, age, wellbeing and quality of life, among many other specific factors. Given the genetic complexity of HoFH, treatments must be specifically designed to address these unique genetic profiles.
"I eagerly anticipate the evolution of personalised treatments into practical approaches that prioritise quality over quantity of life. I envision a future where there won't be a need to advocate or share our stories, as the preventative measures we are fighting for now will change the environment into one where we are all equal when it comes to health."
Elsie’s words highlight the importance of individualised treatment, precision medicine, and access to the right therapies for each person. It is a powerful reminder that for patients with chronic, rare and severe diseases living a good quality of life is as important as staying alive and goes beyond mere treatment. It is about holistic well-being and support.
We believe that every patient deserves access to the best possible, personalised treatment options. Given the gravity of HoFH and the limited effective and appropriate innovative treatment options available in Germany, we urge the G-BA to reassess this decision and to prioritize the health and well-being of patients with HoFH in the country.
We stand ready to engage in constructive dialogue to ensure that the needs of HoFH patients are adequately addressed. Thank you for your attention to this critical matter.
Read the statement here.
I am Elsie, but Cindy to friends and family. I have already lived a remarkable life—one shaped by resilience, determination, and in later years a fierce commitment to educating and advocating for those around me. My journey began in South Africa, where at the young age of three and a half, my mother received the news of a life-altering diagnosis for me: homozygous familial hypercholesterolaemia (HoFH). This is a rare and severe form of inherited high cholesterol in simplest terms. A genetic mutation in my LDL Receptor means that my body cannot manage the cholesterol levels and so it has meant that I have lived with early CVD concerns from childhood. The prognosis was grim with my cholesterol levels alarmingly high, and no effective treatments available at the time.
Despite the odds stacked against me, my mum, a lioness of courage, navigated the complexities of managing me and my condition. Hospital visits, blood tests, medical trials and medications became part of the normal routine. My mum has always been an advocate for being part of a resolution, something I don’t think she really had a choice about as we searched for a way to fix this situation. Some of the trials I participated in had a detrimental effect on my physical health, and in general making it difficult to engage with everyday events. My childhood memories include parties with personalised party packs, school battles to explain an invisible illness, and moments of frustration when I couldn’t participate fully. What I suppose would be normal, was from a perspective of someone who constantly felt tired, had difficulties with tendons that got inflamed, medication reacting to you, etc. As a teenager and into early twenties, I protested against everything that symbolised this intrusion into my ‘normal life’, medication, treatments, health services, new ‘innovative’ therapies, even when I had my first heart attack my reaction was not to have more invasive treatment but to enjoy my life while it was good enough to enjoy. This is a sentiment shared by many who have experienced the challenges of treatments that impact not only physically but also on your mental wellbeing.
For a few years this was the way it was and as this is a condition that you do not feel every day, it was easy to pretend nothing was wrong. I travelled, studies, worked, enjoyed the freedom but it came at a cost. A few years ago, it became evident this condition had not magically vanished but was here to stay and it made its impact known. From that point it was stents, angiograms, a fistula that was needed to access LDL apheresis. This, in itself, had costs and it is not just financial in nature. It costs time, mental effort, relationships and the list goes on. First the appraises sessions took place once every four weeks, then by-weekly, then every week. The goalpost kept changing and I was in a flurry of emotions and thoughts that I can only explain as chaos.
Fast forward to today, and my story has taken a hopeful turn. Thanks to incredible connections made I now can see advances in medical science have brought new possibilities. I am no longer a passive participant. I actively seek out precision medicine tailored to my specific genetic variant. I understand that one size does not fit all—that individualised treatment matters. Gone are the days of “anything goes” in research trials. I now advocate for rigorous, scientifically informed approaches and education for patients and healthcare professional. I believe that rebuilding trust in the medical and research professions requires knowledge, understanding, and true partnership. After all, how can we promise a better future for those diagnosed with this severe condition if we don’t prioritise the right treatment for the right person?
This journey was not and is not an easy one to navigate. Lack of awareness and understanding of this condition as with so many rare conditions can often leave you feeling demoralised, helpless and not in control. With all this new innovative and recognised treatments, we can finally take back that control. Understanding that the research backs up the treatment makes it easier to trust what it will accomplish. Unfortunately, reality is that we still have a lot of people to bring to the table in order to understand that we need to be treated as individuals, with our own pathways. Some will react to treatment in a different manner, and it cannot just be a best fit scenario if we are to be equal to everyone else. From genetic discrimination to equal access to the right treatment, all these areas we are constantly fighting for. This can be tiring and without the support of others it can feel like an endless tunnel. My goal is to make this an easier journey for others to travel, to remove hurdles and disappointment due to misdiagnosis, insufficient knowledge and mistreatment due to lack of understanding the science.