Apheresis Awareness Day is held annually on the third Tuesday in September, while World Patient Safety Day is observed every year on September 17. In 2024, those two days occur on the same day. And both are very relevant and important to our community of individuals and families living with inherited hyperlipidemia.
This year the theme of World Patient Safety Day is “Improving diagnosis for patient safety” with the slogan “Get it right, make it safe!”, highlighting the critical importance of correct and timely diagnosis in ensuring patient safety and improving health outcomes.
Against the wider backdrop of the current efforts to make the Cardiovascular Health Plan for Europe a reality, ahead of the FH Awareness Day and the World Heart Day and finally with the big projects promoting precision medicine, specifically in the FH, like PERFECTO, PerMedFH and FH Early Screening, it is important to reflect on the meaning of those two days for people who are affected with genetic lipid conditions and who to some extend undergo Apheresis.
On this occasion, we have prepared a special blog by Elsie Evans, FH Europe Foundation Ambassador Program Manager and a person living with HoFH, who due to the rare and severe form of FH has been undergoing aphaeresis for most of their life.
As we observe Patient Safety Day and Apheresis Awareness Day, it's essential to reflect on their significant impact on patients' lives. For those of us living with inherited lipid conditions like Homozygous Familial Hypercholesterolaemia (HoFH), these days are not just dates on a calendar— they are reminders of the importance of early detection, accurate diagnosis, individualised treatment, and the ongoing journey towards better health and quality of life.
The mantra "Get it right, make it safe" resonates deeply with us. Accurate diagnosis and individualised treatment are essential for patient safety and effective management of conditions like HoFH. Early diagnosis, informed by genetic testing, allows for timely and appropriate interventions. Personalised treatment plans ensure that therapies are tailored to our specific needs, enhancing our quality of life and long-term health.
Apheresis is a life-saving treatment for many HoFH patients (as well as those with elevated Lp(a) and even those with FCS during pregnancy).
Aphaeresis is a procedure, which involves filtering the blood to remove excess LDL cholesterol, significantly improving outcomes for people with HoFH. However, it also comes with its challenges. Regular apheresis sessions can be time-consuming (taking place weekly, or every two weeks, for 5 hours on´average) and physically demanding, impacting our daily routines and overall well-being. Apheresis is an invasive procedure, associated with a high risk of infections. For children and people, who suffer from trypanophobia (an intense fear of needles), this life-saving therapy can be psychologically and emotionally taxing. Despite these challenges and lack of understanding of the quality of life impact the benefits of apheresis in managing cholesterol levels and preventing cardiovascular complications are still advocated for as first-line treatment. This deserves more attention with a variety of new options becoming available and therefore widening the choice for us as individuals.
Patient Safety Day serves as a crucial reminder of the importance of safe and effective treatment protocols. For those undergoing apheresis, ensuring that the procedure is performed safely is paramount. Prioritising patient holistic care, healthcare providers can help us feel more secure and supported during our treatments.
Keeping all this in mind, the critical role of genetics in diagnosing and treating lipid disorders cannot be understated. Understanding the genetic basis of inherited lipid conditions allows for early detection and the development of individualised treatment plans. During our HoFH Awareness Day Trilogy webinars, experts emphasised the importance of genetic testing in identifying at-risk individuals and tailoring treatments to their specific genetic profiles. This personalised approach ensures that we receive the most effective therapies for the right person at the right time, improving our outcomes and quality of life.
As we commemorate World Patient Safety Day and Apheresis Awareness Day, let's remember the importance of the individuals and families, who depend on accurate diagnosis, personalised treatment, and patient safety. By raising awareness and advocating for better care, we can make a meaningful difference in the lives of people living with these conditions everywhere.
With the international efforts to make cardiovascular health a public health priority, we must be acutely aware of the importance of safety, quality of life and the progress we have made in research and science to Get it right and make it safe.
Listen to stories of international patient ambassadors, advocating for patient safety and raising awareness of aphaeresis.
2. Penilla Gunther about the global perspective and the need for standardised practices.
3. Maria Nassif, HoFH patient and ambassador, about the importance of diagnosis, the right treatment and patient safety.
4. Athanasios Pallidis, FH patient and ambassador, about what patient safety means to him as a patient.
4. Athanasios Pallidis, FH patient and ambassador, about how healthcare professionals can enhance patient safety during the diagnostic process.
4. Athanasios Pallidis, FH patient and ambassador, about the role policymakers can play in advancing patient safety.
4. Athanasios Pallidis, FH patient and ambassador´s message to our community on advocating for themselves as well as the larger community about asking questions and helping make safety a priority.
Together with the international expert speakers, we are delighted to invite you to this rare and exclusive trilogy of educational webinars, where we will explore the Horizons of HoFH Treatment: Current Options and Future Perspectives.
Whether you are a person living with HoFH, caring for someone with HoFH as a caregiver or as a medical practitioner, in each of the three specific webinars you will be able to deep-dive into the current standards and cutting-edge advancements in Homozygous Familial Hypercholesterolaemia (HoFH) treatment and gain invaluable insights from global experts, engage in interactive discussions, and get your questions answered by the panel of specialists and patient advocates.
What You Can Expect:
All three webinars will be co-moderated by Chyrel Lichaa, an internally recognised HoFH Patient Ambassador from Lebanon, and world-renowned paediatric cardiologist Prof. Albert Wiegman from the Netherlands.
Date & Time: 17 September 2024, 18.00 CEST
Featuring: Prof. Mafalda Bourbon from Portugal, Prof. Steve Humphries from the UK, HoFH Patient Ambassador Thanos Pallidis from Greece and HeFH Patient Ambassador and mother of HoFH Patient - Michlle Watts from the USA.
Topic Highlights: Genetics, gene therapies and novel approaches in HoFH management.
Register for the 1st webinar here.
Date & Time: 19 September 2024, 18.00 CEST
Featuring: Dr Julia Brandts from Germany, Dr Antonio Gallo from France, and Elsie Evans, HoFH Patient Ambassador from South Africa/UK.
Topic Highlights: Statins, ezetimibe, and apheresis – essential tools for managing HoFH.
Register for the 2nd webinar here.
Date & Time: 26 September 2024, 18.00 CEST
Featuring: Prof. Luis Masana from Spain, Prof. Raul Santos from Brazil, and Dr Antonio Gallo from France, together with Maria Nassif from France/Lebanon and Marwa Sadik from the UK, both HoFH Patient Ambassadors.
Topic Highlights: PCSK9 inhibitors, lomitapide, evinacumab, and other emerging therapies.
Register for the 3rd webinar here.
Each session will include interactive discussions with patient advocates, giving you the chance to hear real-world experiences and engage directly with leading experts.
Why Attend?
Who Should Attend?
This webinar series is designed for patients with HoFH and HeFH, and their family members and caregivers, healthcare professionals, and researchers, who are passionate about advancing the treatment of HoFH.
We look forward to your participation in these important discussions that will shape the future of HoFH treatment.
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.