Familial Hypercholesterolemia Brings Together More Than 50 People at Sant Pau to Address Advances in Cardiovascular Prevention

High cholesterol does not always start on the plate. In familial hypercholesterolemia (FH), genetics can increase cardiovascular risk from an early age, long before symptoms or complications appear. How to anticipate this risk and move toward more personalized prevention was the focus of the event held on June 19 at the Sant Pau Research Institute (IR Sant Pau), which brought together more than 50 attendees at the Former Convent of Hospital de Sant Pau.

Under the title “How Much Do We Really Know About Cardiovascular Health and What We Inherit? Genetics, Prevention, and New Advances in Familial Hypercholesterolemia,” the meeting brought the main scientific and healthcare challenges related to this common genetic disease closer to the public. When not properly diagnosed and treated, FH significantly increases the risk of developing premature cardiovascular disease.

Throughout the morning, specialists in research and clinical practice shared the advances being made in the diagnosis, prevention, and treatment of FH. The event addressed its main clinical characteristics, the identification of people at higher cardiovascular risk, the importance of diet, and the possibilities offered by artificial intelligence, omics technologies, and cardiovascular imaging to move toward more personalized medicine.

The event also presented the activity of the Familial Hypercholesterolemia Foundation, as well as the experience of the SAFEHEART study, coordinated for more than 20 years by the Familial Hypercholesterolemia Foundation. New research is being developed on this cohort to better understand the evolution of the disease, its complications, and the factors that may explain why some people experience cardiovascular events earlier than others.

The event featured the participation of Dr. Daniel Zambón, from Hospital Clínic de Barcelona and a researcher in the SAFEHEART study; Dr. Raquel Arroyo, from the Familial Hypercholesterolemia Foundation and a researcher in SAFEHEART and the MedPreHF project; Dr. Teresa Padró, a researcher at IR Sant Pau and the Biomedical Research Networking Center for Cardiovascular Diseases (CIBERCV) and principal investigator of MedPreHF, based on the SAFEHEART cohort; and several members of the MedPreHF research team.

One of the central moments of the meeting was the roundtable “Current Challenges and the Future of FH: Research, Clinical Practice, and the Patient Experience,” which made it possible to integrate scientific, healthcare, and personal perspectives. The discussion highlighted the importance of improving early detection, advancing individual risk stratification, and taking patients’ experiences into account both in clinical care and in the development of new lines of research.

“The audience response was very positive and shows that there is strong interest in better understanding FH and in learning how scientific advances can translate into more effective prevention. Bringing together researchers, healthcare professionals, and patients in the same space allows us to share needs, answer questions, and guide research toward problems that have a direct impact on people’s lives,” said Dr. Teresa Padró.

Toward More Personalized Prevention

The meeting was part of the project Precision Medicine in Familial Hypercholesterolemia and Premature Cardiovascular Disease Through the Integration of Omics and Imaging Technologies (MedPreHF), coordinated by IR Sant Pau. The research aims to understand why some people with FH develop cardiovascular complications earlier than others, even when they share similar genetic characteristics.

To this end, MedPreHF applies new molecular analysis and cardiovascular imaging technologies to the SAFEHEART cohort, with the goal of identifying markers that can better predict individual risk, adapt prevention strategies, and move toward treatments tailored to each patient’s characteristics.

The project also studies differences between women and men in the development of cardiovascular disease, with the aim of better understanding the mechanisms that may explain greater vulnerability or protection and translating this knowledge into more precise prevention.

MedPreHF, with file number PMP22/00108, is funded by the Carlos III Health Institute, within the framework of the Recovery, Transformation, and Resilience Plan and with funding from the European Union–NextGenerationEU.