Family Heart Global Summit highlights advances, continued challenges related to familial hypercholesterolemia
Laurence Sperling, MD, founder of the Center for Heart Disease Prevention at Emory University School of Medicine in Atlanta, Georgia, talked with Rare Disease 360 about the recent Family Heart Global Summit that took place in Dallas, Texas.
Question:
What are some highlights from the Family Heart Global Summit?
Laurence Sperling, MD:
The 10th Global Summit has been really a phenomenal event. This summit has celebrated 50 years of discovery, science, and innovation related to familial hypercholesterolemia and lipoprotein(a). The summit itself has recognized leaders in the field, truly Nobel Prize winners, Drs. Brown and Goldstein, who discovered the LDL receptor and has made this science and discovery possible over the past 5 decades.
We also are recognizing a pioneer in science and pharmacotherapy. Dr. Helen Hobbs was recognized at the meeting as a pioneer for the Family Heart Foundation. She discovered PCSK9, which is a protease involved in the turnover of the LDL receptor. By this discovery, today, we have pharmacotherapies that enable the inhibition of PCSK9, significant lowering of LDL cholesterol, and the prevention of cardiovascular events.
Other impactful sessions during the meeting focused on the importance of health equity, pediatric screening related to hypercholesterolemia, as well the importance of a unified and collaborative effort in terms of strategies to move the field forward more rapidly.
Question:
What are some key areas of focus for the foundation and the summit?
Laurence Sperling, MD:
One of the challenges related to familial hypercholesterolemia, which, although we’re talking about Rare Disease 360, FH is one of the most common genetic conditions we see, with heterozygous familial hypercholesterolemia being found in anywhere between 1 and 201 and 250 individuals leading to a significantly greater risk of premature cardiovascular disease.
The Family Heart Foundation now focuses on lipoprotein(a), which clearly is not a rare condition as we see this in 1 out of every 5 individuals worldwide as an elevated value. What is unique about the Family Heart Summit is that the Family Heart Summit and the Family Heart Foundation leads with the lived experience.
In each and every one of the sessions of this meeting, an individual living with familial hypercholesterolemia and or elevated lipoprotein(a) shares their family story, their personal journey, as it brings us back to the importance of science, innovation, population health, public health, and a way to think about a greater future.
Question:
You presented a talk titled “Population Health Approaches to Accelerate the Prevention of CVD: Moving from Action to Impact.” What were some key takeaways from that talk?
Laurence Sperling, MD:
Some key takeaways from my presentation, which was in the final session of the meeting session 6, was that although we have certainly accelerated the science, the discovery, the innovation, the pharmacotherapies, and the identification of those living with genetic cholesterol disorders, we have a long way to go. There are significant gaps, and in my presentation, I talked about leading with the facts. The facts are that cardiovascular disease remains the leading cause of death in our nation and globally, and it has been the leading cause of death for over a hundred years now, except for 2 years.
These were the 2 years of the Spanish Influenza Pandemic. During our recent COVID-related public health emergency and pandemic, cardiovascular disease remained the number 1 cause of death. Although COVID-related illness related to death in our nation has significantly declined over the past 4 years, cardiovascular disease as a concern has not. Leading with the facts also includes that familial hypercholesterolemia and elevated lipoprotein(a) are population health concerns. Therefore, in addition to the great work that has been done over the past 50 years in order to accelerate the discovery of those living with genetic disorders, early identification, early treatment, leading to preventive efforts, we need systems approaches.
We need population health approaches, and we need to harness the technology we have before us. We have the opportunities today to harness big data AI, which, although we often speak about AI as artificial intelligence, it truly is augmented or assisted intelligence to better our capabilities for HI, which is human intelligence. Those are the facts. We must also think about the population health approaches, which first begins by identifying the barriers, the possibilities of systems approaches, and it also recognizes that in order to be successful, in order to accelerate the work that we are presently in the midst of, we need to have very specific and intentional strategy.
Question:
What are some action items that can be taken to make an impact on individuals?
Laurence Sperling, MD:
I specifically titled my presentation “Moving from Action to Impact” because often we can be actionable and we can be very motivated to create efforts, but those efforts have to be strategic; they have to be well thought through, and they also have to be intentional with the idea that impact just by an equation is efficacy times reach. I create a parallel in my presentation to now that we have completed the Paris Olympics.
I used the story of the year 2000 UK Olympic team, which had not won a gold medal in rowing from 1912 until the year 2000. The team approached this in a very unique way, and everything they focused on with their training was focused on a single question, will it make the boat go faster? As we think about accelerating what we have related to science, innovation, discovery, and knowledge of population health, we have to ask a similar question to improving the care of those living with genetic cholesterol problems.
The last thing I pointed out in my presentation was we often think about population health, public health, and global health related to large bodies of people within large populations. But we need to bring this back to each and every individual that population health is about people. This translates to the mission of the Family Heart Foundation, improving the lives of those living with genetic cholesterol problems.
Question:
You were also a co-chair of this year’s meeting. What topics or themes were important to you when planning this meeting?
Laurence Sperling, MD:
As we planned the meeting, as one of the co-chairs, along with Dr. Christie Ballantyne and Dr. Fatima Rodriguez, we thought about painting the very exciting picture of science, the discoveries that have occurred that have enabled better identification and treatment of those living with familial hypercholesterolemia. But we also wanted to build the summit to broach areas where we can work together to make greater strides. As I mentioned, these are areas related to discovery of new agents approaches to earlier detection, thinking about pediatric screening as a universal approach.
Also thinking about the importance of health equity. It’s also important that we build this story into one of urgency. Cardiovascular disease remains the number 1 cause of death in our nation and globally. We often think of this with complacency that cardiovascular disease will occur in many of us, and we can no longer be so complacent. We need to think about successful approaches that have been able to do this in medicine related to advocacy, thinking about healthcare economics and population-based economics, and translating this back to successful approaches.
In our last session of the summit, we focused on lessons learned from The Red Dress campaign. Dr. Martha Gulati presented the success of The Red Dress campaign but also the importance of sustaining messages and bringing messages to new generations. Also, Dr. Ben Soroka presented important work from the Massachusetts General and Brigham and Women’s Hospital system, where they focused on the impact of systems approaches related to treating hypercholesterolemia.
