RACE 9

An aneurysm is a bulging or dilation of a blood vessel that usually causes no symptoms but can become life-threatening if it ruptures. It most commonly occurs in the body’s main artery (aorta) or in the brain arteries. Each year, thousands of people in the Netherlands are diagnosed with an aneurysm. The national initiative Aneurysm-NL brings together knowledge and research to improve diagnosis and treatment. By fostering collaboration between physicians, researchers, and patients, we aim to detect aneurysms earlier and treat them more safely, ultimately improving care and reducing mortality from this condition. The Research Aneurysm-NL aims to build a sustainable, nationwide infrastructure that connects medical centers, researchers, and patients to accelerate innovation in aneurysm research and care. A central focus is the development of a national data platform that integrates clinical records, imaging, biobank samples, and genetic information. This resource will allow researchers to reconstruct lifetime disease trajectories, improve risk prediction, and enable more personalized treatment. In parallel, the project develops advanced research tools, including patient-derived in vitro aneurysm models and large-scale omics-approaches to identify new therapeutic targets. By integrating clinical insights with computational modeling and real-world outcome data, Aneurysm-NL supports better decision-making and more effective interventions for both aortic and cerebral aneurysms. It also evaluates the safety and effectiveness of current endovascular and neurosurgical treatments for unruptured brain aneurysms through a large multicenter study. Aneurysm-NL also invests in building a strong and inclusive research community. The project emphasizes collaboration between researchers, clinicians, and patients, and actively works toward linking its infrastructure to national registries and existing healthcare data sources to ensure long-term sustainability and broad accessibility. By uniting expertise from across the country, Aneurysm-NL strives to generate new knowledge, enable earlier and more accurate diagnosis, and personalize treatment strategies for aneurysm patients. The Origin The Aneurysm-NL consortium was established following an exploratory initiative within the Dutch CardioVascular Alliance (DCVA), aimed at identifying opportunities for a national approach to aneurysm research. Based on this exploration, Barend Mees, Hanneke Takkenberg and Mervyn Vergouwen were appointed as coordinators to lead the formation of the consortium. Following a national call in April 2024, they brought together clinicians, researchers and patients from across the Netherlands to collaborate in this new initiative. With funding from the Dutch Heart Foundation, Aneurysm-NL now aims to grow into a nationwide network and data infrastructure, uniting clinical and scientific expertise to advance aneurysm research and care in the coming years.

Familial Hypercholesterolemia (‘FH’) is the most prevalent genetic cause of premature atherosclerotic cardiovascular disease (ASCVD). FH has an estimated prevalence of 1:300 in the general population in the Netherlands. FH is characterized by lifelong elevation of LDL cholesterol, resulting in a profoundly increased risk of coronary heart disease (CHD) and premature death. Early identification of FH and intensive LDL cholesterol management are essential to minimize the lifetime cumulative cholesterol burden and associated risks. FH is inherited. Typically, parents with one pathogenic mutation have a 50% chance of passing down the condition to each child. Therefore, it is essential to screen first degree relatives (children, parents, brothers & sisters) of an individual diagnosed with FH, to detect other family members who may have inherited FH. LEEFH network In the Netherlands we have long track record with FH index identification, cascade screening of first degree relatives and associated research activities. Stichting LEEFH support healthcare professionals pro-actively to pursue cascade screening, aiming to identify FH-patients as early as possible. LEEFH works in a voluntary network with 39 hospitals (LEEFH centres) to optimize FH care and cascade screening. Over the years, an active database has been built up with approximately 7,000 family pedigrees and more than 37,000 FH positive tested patients. Annually, we detect ~ 300 FH+ indexes (new FH families) and 500 FH+ family members by cascade screening. A unique example of early prevention. The Research LEEFH supports research activities in the field of FH detection and treatment with its acquired knowledge, database and network. Recent examples of this include FH identification via central laboratory data, electronic health records and general practitioners. We also participate in research projects with other genetic disorders in order to further improve cascade screening through knowledge sharing (for example in the consortium ‘eCG Family Clinic’ (e-Cardiovascular Genetics Family Clinic). The Orgin The LEEFH network is a voluntary partnership since 2013. 39 hospitals are now affiliated. Each hospital (LEEFH center) has a number of healthcare professionals with a great deal of knowledge and affinity with FH. The LEEFH network aims to prevent (unnecessary) cardiovascular diseases by a) detecting FH family members through cascade screening and b) creating more awareness about FH. We do a lot of knowledge sharing about FH, both among ourselves and also through regional meetings with families and general practitioners. We have signed network agreements with ‘who’ does ‘what’ and ‘when’ in the cascade screening . The aim is to inform and support each family in the right way in the cascade screening. The DNA diagnostics are carried out by the Amsterdam UMC. Application forms and test packages are available via Stichting LEEFH.