 |
|
2017 FH Global Summit Recap
Dr. Kastelein set forth the historical and current efforts made to address detection and treatment of individuals with FH while reminding us all of the
|
|
future progress required. As much as we know today, there is still so much more to learn and implement.
|
|
|
|
|
|
|
"The phenotype has dramatically changed. However, it still pays off to look around you if you are a physician, whether you are in a subway or an airplane. You can still make the diagnosis on physical characteristics."
John J. Kastelein, MD, PhD
Co-Chair, 2017 FH Global Summit
Academic Medical Center,
University of Amsterdam
|
|
"Translational medicine is an important area of science that has been underemphasized - taking all the great research that is developed by many different investigators and figuring out how we can actually use it to implement it in a strategic and effective way."
Daniel J. Rader, MD
Co-Chair, 2017 FH Global Summit
Perelman School of Medicine,
University of Pennsylvania
|
|
FH Advocate for Awareness, Alison Jamison, joined the panel of experts to share her journey with HoFH, from being incorrectly diagnosed with HeFH at age 3, to multiple bypass surgeries and pregnancies. As Alison recounted,
|
|
"What Dr. Wenger said about the lack of women in clinical trials really rang true, as I feel lucky to have been part of one of the first PCSK9 trials after years of searching for solutions."
|
|
|
|
|
|
"The current advances in science and technology are incredible but they often stand in stark contrast to the complex reality of delivering healthcare."
Katherine A. Wilemon
Founder & CEO, The FH Foundation
|
|
A conversation with (from right to left) Seth Baum, MD, Nanette K. Wenger, MD, Alison Jamison, Katherine A. Wilemon, and John J. P. Kastelein, MD, PhD
|
|
"The Summit was fantastic, the most exciting meeting that I have participated in regarding familial hypercholesterolemia. From the scientific content to the networking activity, all the details were perfect."
Pablo Corral, MD
Instituto Clínica Médica,
Argentina
|
|
FH Pioneer Award
Keynote Address: Nanette K. Wenger, MD
|
|
The FH Foundation presented Dr. Nanette K. Wenger with the FH Pioneer award for her extraordinary leadership in academic and clinical medicine that redefined how the medical community perceives cardiovascular disease. A remarkable career spanning over 60 years, Dr. Wenger's efforts brought women's heart health to the forefront in the fight against the leading cause of mortality.
|
|
In her keynote address, Dr. Nanette Wenger drew parallels between the women's cardiovascular health movement and FH. She highlighted the importance of identifying knowledge gaps through gender-specific research
with the goal of translating findings into clinical practice.
|
|
"There is nothing as powerful as an idea whose time has come," remarked Dr. Wenger, when referring to clinical trials for women with heart disease, and applying the same to FH.
|
|
|
Understanding the Journey:
The Past, Present and Future of CVD in Women
|
Dr. Wenger left us with four key calls to action:
investigate . educate . advocate . legislate
|
|
The Role of Race
|
Dr. Bustamante's and Dr. Wilson's research illustrated why diverse human populations must be studied in order to identify new genes involved in heart disease.
Dr. Bustamante's efforts involve cataloging variants within genes, identifying which are global and which are local. Most interestingly, the process involves cross tabulating genetic information against electronic health records to identify the distribution and frequency of genetic variants and the phenotypes they impact.
|
|
Dr. Wilson outlined key findings from the Jackson Heart and Framington
Heart studies including differences in cardiovascular disease (CVD) risk and
outcomes for blacks. He pointed out that population specific and rare variants, such as PCSK9 LOF variants, Y142X and C679X, have been informative, but account for only a small proportion of CVD risk. This further emphasizes the need to study racial and ethnic differences to understand and treat subpopulations more effectively.
|
|
|
|
|
|
"We need to fill out the catalog so that we enable a precision medicine that ideally reduces health disparities and doesn't broaden them."
|
|
James Wilson, MD
University of Mississippi School of Medicine
|
|
|
Health Disparities Identified
Longitudinal data from the multi-ethnic CASCADE FH™ Registry has revealed differences in diagnosis and treatment by gender, age and race.
Joshua W. Knowles, MD, PhD
Chief Medical Advisor, The FH Foundation
|
|
LDL-C levels are similar at baseline
but there are gaps in care
|
|
|
|
The Genetic Spectrum of FH
|
Genetic sequencing of individuals with FH has demonstrated the robust variability in FH phenotypes and has improved our understanding of cardiovascular disease risk as well as response to therapies within subpopulations.
Dr. Khera explained a paradigm shift in which FH will move from a phenotype-first condition to a future of
|
|
genotype-first, stating that the approach will allow us to gain more insights into the phenotypic consequences of having a specific mutation.
Dr. Cuchel discussed the role of residual LDL receptor activity in therapy response for homozygous FH, explaining that understanding the mutations may help determine the most effective therapeutic approach. |
|
|
|
|
|
"In a genotype-first world, FH mutations are not a disease, but a risk factor. Mutation severity is not binary but exists on a continuum and they predispose disease not in a deterministic fashion but in a way that is probabilistic and modifiable."
Massachusetts General Hospital
|
|
Marina Cuchel, MD, PhD
University of Pennsylvania
Perelma
n School of Medicine
|
|
Pediatric FH and Screening
|
Pediatric FH patients remain highly under-diagnosed and undertreated. We also know that time is of the essence as cardiovascular disease risk increases with lifelong accumulation of high LDL cholesterol.
Dr. Wald proposed pairing child
screening to first-year immunization,
|
|
a widely accepted opportunity when parents are driven to protect their children.
Dr. Wiegman demonstrated that children and adolescents can gain decades of life by optimizing detection and treatment. |
|
|
|
|
|
"Cascade testing and child-parent screening are complementary strategies; they are not competitive."
Wolfson Institute of Preventive Medicine
|
|
"There can be significant and impressive reduction to early mortality with screening and lifelong management."
Albert Wiegman, MD, PhD
Academic Medical Center,
University of Amsterdam
|
|
Women and FH
|
Dr. Wenger chaired a session on FH care and women, with Dr. Sperling providing the FH specialist perspective
|
|
and Dr. Sophocles, an OB-GYN, providing the perspective of an individual with FH.
|
|
|
|
|
|
"All women of childbearing age should receive pre-pregnancy counseling but statin therapy should not be withheld."
University of California, Los Angeles
|
|
A conversation with (from right to left)
Nanette K. Wenger, MD,
Maria Sophocles, MD,
and
Laurence S. Sperling, MD
|
|
Cascade Screening
|
There is tremendous opportunity to learn from other conditions, such as Lynch syndrome, about how to approach cascade screening for FH.
|
|
|
|
"The opportunity to better use informatics, the internet and telemedicine is a way to reach more people so that they can benefit from the information we have."
Michael Pignone, MD, MPH
Dell Medical School at the University of Texas
|
|
Drs. Kees Hovingh and Ezim Ajufo discussed the successes and challenges of cascade screening in the Netherlands and the United States.
|
|
G. Kees Hovingh, MD, PhD
Academic Medical Center,
University of Amsterdam
|
|
Ezim Ajufo, BA (Hons), BM, BCh
|
|
|
"This is what I consider a new model and it's exactly what is being done by the FH Foundation. It's a shared database where patients, DNA labs and physicians all bring in data and the aggregate overall data can be generated and assessed."
- G. Kees Hovingh, MD, PhD
|
|
|
|
|
Access to Care
The FH Foundation is working on all fronts with every stakeholder to address barriers to access to FH therapies and care for improved health outcomes.
|
|
|
|
|
Kelly D. Myers
Chief Technology Officer, The FH Foundation
|
|
Cat Davis Ahmed, MBA
VP Policy and Outreach, The FH Foundation
|
|
|
FOCUS: Familial Hypercholesterolemia Optimal Care in the US
|
In an effort to address this serious public health concern, the FH Foundation
updated the FH Diagnosis App, which many now rely upon to quickly and easily perform the FH diagnostic criteria.
Download or update the latest version today from the
Apple Store.
|
|
|
|
|
|
"We are reaching out to payers, bringing the data, bringing the medical expertise, and bringing the patient stories and advocating on behalf of the FH population and the work that you all do to address these barriers."
Catherine Davis Ahmed, MBA
VP, Policy and Outreach, The FH Foundation
|
Precision Public Health
|
Dr. David Wood, President Elect of the World Heart Federation, indicated that cardiovascular disease poses the most significant burden globally, therefore a global solution is warranted.
|
|
Dr. Jennifer Hall highlighted the need for new models for research that remove traditional barriers to scientific discovery leading to data democratization and harmonization. |
|
|
|
|
|
David Wood, MBChB, MSc, MRCP
National Heart and Lung Institute
|
|
American Heart Association
|
"The chances of guidelines about prevention and treatment being implemented are low unless there is an ICD-10 code; unless the healthcare system is oriented towards prevention rather than simply treatment of existing cardiovascular disease; unless the education and training of the workforce is oriented towards prevention; unless there is money invested in this effort."
- David Wood, MBChB, MSc, MRCP
|
|
Keynote Address: George Mensah, MD
|
|
|
"The FH Foundation has done a fantastic job in highlighting the gaps in understanding, rate of diagnosis and care, and making sure that we are aware of the challenges and the lives we are not saving."
|
|
"We have to do everything possible to close the gaps. Gaps between what we don't know and what we do; gaps between what is prescribed and what is actually dispensed; gaps between what we tell our patients to do and what they are able to afford and accept."
George Mensah, MD
National Heart, Lung, and Blood Institute
Keynote Speaker, 2017 FH Global Summit
|
Click below to view the
2017 FH Global Summit Summary:
|
|
Thank You to our 2017 FH Summit Sponsors:
|
|
Our work would not be possible without you. The FH Foundation would like to convey 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. John Kastelein and Daniel Rader, and all the members of the 2017 FH Global Summit Steering Committee:
Seth J. Baum, MD
G. Kees Hovingh, MD, PhD
Muin J. Khoury, MD, PhD
Joshua W. Knowles, MD, PhD
Stacey R. Lane, JD, MBE
Laurence S. Sperling, MD
Karol E. Watson, MD, PhD
|
|
|
|
|
|
|
|
