“Great scientific progress, efficacious therapies, and elegantly written guidelines don’t always end up helping the people they were intended to serve. This is a sobering fact, and in many ways, is the story of familial hypercholesterolemia,” asserted Katherine Wilemon, Founder and CEO of the FH Foundation, as she shared why we needed to focus on implementation and evidence-based care of FH. Additionally, the 2018 FH Global Summit commemorated the 20 th  anniversary of the World Health Organization’s (WHO) recognition of familial hypercholesterolemia as a public health concern. The framework of the agenda reflected the key topics covered by the WHO recommendations. Once again, the FH Foundation was honored to bring together the global FH community of scientists, clinicians, public health experts and advocacy leaders, as well as families living with FH from 25 countries.

“Today 30 million people live with FH and we can help them. At the time, the concept of primary prevention by lowering LDL-cholesterol was still novel. Now we have mountains of data demonstrating the efficacy of lowering LDL to prevent cardiovascular events.” – Katherine A. Wilemon

Opening Ceremony

“Governments and national institutes of health should be made aware of the existence of FH as a health hazard.” – Daniel J. Rader, MD “Treat the risk! We’re not treating the biomarker. We’re treating the risk." – G. Kees Hovingh, MD, PhD Co-chairs Drs. Hovingh and Rader highlighted the key recommendations of the 1998 World Health Organization (WHO) report on FH. Our hope has remained the same," to find every individual with FH and ensure early treatment." We have known for 20 years what we need to do, but how do we put this into practice and implement what we know?

“Perhaps the existence of a patient organization and advocacy group is the most crucial tool to motivate governments. The patient has no interest but their own health.” – Joep Defesche, PhD “Citizens will drive the diagnosis of FH.” – David Marais, MB ChB In a historic event, several of the original WHO report authors reflected on what worked and what could have gone better since the report was published 20 years ago. Opportunities to improve FH care Awareness Education of general practitioners and pediatricians Important role of patient advocacy organizations Universal screening and genetic testing Flagging medical records of those at-risk Large employer testing opportunities

FH Pioneer Award: Roger R. Williams, MD

The FH Foundation presented the FH Pioneer Award posthumously to Dr. Roger R. Williams (1944-1998) , in honor of his incredible vision to find and help people with heart disease-prone “family trees.” His enthusiasm and passion led to the international adoption of the Make Early Diagnosis and Prevent Early Death (MED-PED) effort by 40 countries. Two of his children and five of his grandchildren accepted the award on his family’s behalf.  To understand more about Williams’ work and impact, read this letter authored by his colleague and friend, Dr. Rob Hegele, or watch this video interview with Dr. Ian Hamilton-Craig. As Stacey Lane, Vice Chair of the Board of Directors for the FH Foundation remarked , “there is a not an individual with FH who has not benefitted from his work.”

Honor the Global Legacy of Roger R. Williams, MD The work of Dr. Williams was a gift to the world. The FH Foundation is grateful for the opportunity to carry on his legacy. Your donation in his memory will help the FH Foundation continue the fight for timely, accurate diagnosis for families with FH. Click here to MAKE A GIFT TODAY and help find the 90% around the world who are undiagnosed, or call (626) 583-4674 to give by phone. Thank you for ensuring that the work of Dr. Williams’ lives on.

Keynote – David Chambers, DPhil “Turning Discovery Into Health: The Promise of Implementation Science”

In his keynote address, Dr. David Chambers urged everyone to think differently about the fit between the intervention and the individual’s need, what he called the “fish-bicycle conundrum.” He pointed out that our current processes are failing us because it takes “ 17 years to turn 14 percent of original research to the benefit of patient care. ”

He argued for:  considering real-time implementation in clinical practice, to plan for ever-evolving systems and environment, and ensure considerations of variables such as workforce training and costs.

“One of the problems is that we don’t think early enough about the fit of the interventions we’re trying to develop and the population we’re trying to serve.” – David Chambers, DPhil

Care Begins with Identification

Dr. David Wald moderated a dynamic session highlighting complementary strategies to identify new FH individuals and their family members -- from child-parent cascade screening to targeted testing leveraging electronic health records and the FIND FH ®️ claims database. Key barriers to effective cascade screening leveraging traditional methods were highlighted: variations in the healthcare system and genetic/privacy policies, poor communication in families, geography, health literacy, lack of reimbursement.

Dr. Watts called on primary care practitioners (PCPs) to play an increased role in identification. Dr. Birnbaum shared how Kaiser Permanente has overcome some of the implementation challenges, including creating an automatic referral system that doesn’t add work to primary care physicians who are already receiving 50+ alerts for "worthy causes." Dr. Shapiro reported that in the Oregon Health & Science University system the FIND FH algorithm identified 62% of individuals with FH who would not have been found through LDL cut-offs alone.

“We can’t implement the science if we can’t bring the patients into the clinics.” – Richard Birnbaum, MD

Rebecca McKenzie and her family shared their experience of being diagnosed with FH through the child-parent screening study in the United Kingdom. She outlined how parents are much more focused on the health of their kids compared to themselves , and that she was much more willing to participate in a study for the sake of her young son than she would have been for herself.

Aram Zegerius of the Netherlands contrasted his unique perspective of having been identified with FH at birth, his parents having benefitted from his country's decades of focus on FH identification and care.

"Because I knew at birth, I could start treatment at 12, have more check-ups and won't die like my grandfather in his 50's or have a heart attack like my father!" – Aram Zegerius, Individual with FH

Knowledge Needed to Improve Care

Implementation challenges for optimal FH care were addressed in a key session moderated by Dr. Joshua Knowles. Dr. Sarah de Ferranti outlined large gaps in statin use for individuals with presumed definitive FH, according to the NHANES database. Younger adults, uninsured, and individuals without a consistent source for care are at greatest risk of 1) being undertreated and 2) not on statins. Dr. Brian Tomlinson highlighted the implications of health literacy on outcomes, calling for the need for more educational materials in multiple languages.  Dr. Børge Nordestgaard emphatically articulated that “nothing has ever been shown more convincingly than the fact that statins reduce heart attack, stroke and early death” and yet negative media articles drive decreased usage in statins.

One program that the U.S. is using to decrease heart attacks is the Million Hearts initiative, as reported on by Dr. Janet Wright. FH falls into two key strategies including the management of cholesterol and the focus on priority populations such as individuals with previous heart attacks. The FH Foundation is pleased to be a key partner in this initiative and ensure that we can find individuals who are most at-risk and “hiding in plain sight.” Finally, FH Foundation Chief Medical Officer, Dr. Samuel Gidding outlined data from the CASCADE FH ®️ Registry noting we are finding individuals with FH far too late: “Once you have had your first event you are five times more likely to have your second event.”

"FH has drowned in the statin debate... make everybody aware that FH is different from the normal cholesterol discussion."  – Børge G. Nordestegaard, MD, DMSc

Cardiovascular Risk Stratification in the FH Population

Dr. Catherine Boileau and Dr. Marianne Abi Fadel are renowned for their pioneering work identifying the role of PCSK9 in regulating cholesterol in FH. This energizing talk underscored the importance of disease genes and modifier genes on the disease initiation, progression and variability of FH. They posed the question: where is the missing heritability in FH? Proper gene and missed variant Proper gene and unrecognized variant Variant in an untested gene New still unknown disease gene

Professor Amy C. Sturm presented on the importance of incorporating the patient voice into the genetic testing statement recommendations to ensure successful implementation. Genetic testing should be offered to individuals suspected to have FH and their family members. Dr. Anne Tybjærg-Hansen outlined the importance of screening for Lp(a) in individuals with FH because it is an important risk factor for cardiovascular disease and contributes to LDL cholesterol in 25% of individuals with clinically defined FH. She reported that Lp(a) measurement can inform decision making for: Patients at intermediate risk Family history of premature CAD Younger patients who may not meet treatment risk criteria

"Families played a key role in linking PCSK9 to hypercholesterolemia." – Marianne Abi Fadel, PharmD, PhD (featuring Catherine Boileau, Anne Tybærg-Hansen, Marianne Abi Fadel, and Amy Sturm)

Care and Economics: A Somewhat Messy Intersection

“We need to think about getting payers and providers guidelines to implement genetic cascade screening and treatment with statins/PCSK9 inhibitors because there is no economic reason not to do so.” – Joel W. Hay, MD

The critical cross-section between health and economics relies on strong clinical evidence, long-term outcomes and cost variables specific to the FH population, as clearly articulated by Dr. Finn Børlum Kristensen and Roger Longman. Today, FH-specific data and analysis is lacking and compounded by the lack of awareness and diagnosis.

Beyond lack of diagnosis, the lack of prescribing for all lipid lowering therapies creates challenges.” – Kelly Myers

"Even though I was 32 and had an LDL-C over 420 mg/DL, I was told, 'You are too young for this to be your heart.'" – Daniel LoDolce, Individual with FH

Keynote – Atul Butte, MD, PhD "Translating a Trillion Points of Data into Diagnostics, Therapies and New Insights in Health and Disease"

Dr. Atul Butte advocated for the sharing and use of open source data/ big data to advance innovation in his keynote address .  Across the University of California Health System, he calculated that there are 2.2 million LDL cholesterol values (close to half of which are over 400 mg/dL) and 2,000 individuals who have the E78.01 diagnosis code.

“In today’s world, we already have the data, but the hard part is asking the right question.”   “A new definition for an accountable care organization - one that knows how to account for the care of all of its patients.” – Atul Butte, MD, PhD

Click below to view photos and slides from 2018 FH Global Summit:

FH Community Forum

The FH Foundation hosted an FH Community Forum on September 30 to discuss the "hot topics in FH." More than 35 individuals with FH engaged with FH medical experts on FH diagnosis, treatment, risk assessment, and clinical trials.

"The FH Community Forum gave us a rare and much needed opportunity as FH patients to interact and ask specific questions of leading doctors in the fields of lipidology and cardiology. This gave us the reassurance and answers we are looking for as FH patients to make our best health decisions."  – Kathy Thompson, Individual with FH

These perspectives are fundamental to the FH Foundation's programs that drive advocacy and awareness for FH. Thank you to FH experts: Kathleen Byrne, CRNP, Josh Knowles, MD, PhD, Stacey Lane, JD, Michael Shapiro, DO, Maria Sophocles, MD, and Heather Zierhut, PhD, MS.

Global Call to Action on Familial Hypercholesterolemia The FH Foundation collaborated with the World Heart Federation and convened the first of a series of meetings called the  Global Call to Action on Familial Hypercholesterolemia on October 3, d irectly following the Summit .  Stakeholders from 23 countries within the FH Global Network Community, including FH experts, physicians, FH advocacy organizations, patients and the original authors of the 1998 WHO Report on FH were invited to collaborate together to drive the prioritization of FH around the world and to update the original 1998 recommendations. As a result of this meeting, the group agreed to develop recommendations that address the needs of the global FH community and gain further consensus by involving additional FH stakeholders.  Click here to read more detailed meeting highlights.

Thank you The FH Foundation would like to express our deepest gratitude to the speakers, panelists, moderators and all participants. We are grateful for your commitment to collaborate, share and learn from each other for the benefit of individuals and families impacted by FH. The FH Foundation is grateful to our most distinguished co-chairs, Drs. G. Kees Hovingh and Daniel J. Rader, and all the members of the 2018 FH Global Summit Steering Committee: Pablo Corral, MD Sarah de Ferranti, MD, MPH Joep C. Defesche, PhD Jalpa A. Doshi, PhD G. Kees Hovingh, MD, PhD Muin J. Khoury, MD, PhD Joshua W. Knowles, MD, PhD Børge G. Nordestgaard, MD, DMSc Daniel J. Rader, MD David Wald, MBBS, MD, FRCP Katherine A. Wilemon

Thank you to our 2018 FH Global Summit Sponsors