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The FH Foundation's 2015 FH Global Summit brought together renowned experts within and beyond the field of FH to share insights about new data and novel strategies for identifying and treating individuals with familial hypercholesterolemia.
Although manageable, FH poses a significant public health burden around the world. FH remains vastly under-diagnosed and under-treated. Global leaders
joined in robust conversations to change that.
Summit Kick-Off
The FH Foundation presented the first
FH Pioneer Award
to
Dr. Avedis K. Khachadurian
, the first to appreciate the different levels of severity of the disease and differentiate between heterozygous and homozygous forms of FH.
Mashal Anjum, an early patient of Dr. Khachadurian, paid tribute to him. "I'm very thankful to him for my life," she said.
Nobel laureates Drs. Brown and Goldstein used fibroblasts studied and separated by Dr. Khachadurian to conduct the research that led to the scientific understanding of cholesterol metabolism.
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Data-driven approach to changing the status quo
Margaret Anderson, Executive Director of FasterCures, gave a keynote address on the pivotal role of the FH Foundation as an honest broker and aggregator of data that will drive progress for patients.
"Now is not the time to go slowly.
Time = Lives" - a great reminder of the importance of the work we came together to do.
Margaret Anderson
Executive Director, FasterCures
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FH: More Common Than We Thought
FH has historically been underestimated and thus remained undetected, resulting in high incidence rates of preventable premature heart disease.
Distinguished physician-scientists addressed the issue of FH prevalence. Recent findings from studies looking at both genetic and clinical diagnoses indicate a prevalence of 1:200 to 1:250 for heterozygous FH and 1:160,000 for homozygous FH.
"Let me just remind you that we don't treat the mutation, we actually treat the LDL levels."
Anne Tybjaerg-Hansen, MD, DMSc
Presenting data from Northern Europe on prevalence
"According to a recent genetic study, prevalence [of FH] is closer to 1:200"
Nathan Stitziel, MD, PhD
Washington University
In an approach to identify individuals with FH at an EHR level, Geisinger Health Systems has found a prevalence of 1:174 for FH-associated gene variants compared to 1:400 for Hereditary Breast and Ovarian Cancer and 1:440 for Lynch Syndrome. All three conditions have been designated as Tier 1 Genomic Applications, indicating that they are a national public health concern, however there are clear guidelines for management and prevention are available.
"Your DNA is not your diagnosis"
Michael Murray, MD
Geisinger Health Systems
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Molecular and Clinical Heterogeneity of FH
FH is a highly heterogenous condition as several distinguished speakers explained. Data from across the globe is being harnessed to improve our understanding of FH characteristics.
LDL-C is the main driver of treatment
Studies suggest that a specific genotype does not always give rise to a similar phenotype. Equivalently, phenotypically alike individuals may lack the same genotype. Due to this heterogeneity, presenters concluded that it is not the genetic diagnosis but the resulting high LDL that confers the increased risk for early heart disease.
"Decision-making on how to treat, when to treat and who to treat is based on LDL-C levels and not on the genotype."
G. Kees Hovingh, MD, PhD
University of Amsterdam
Consider Lp(a) when treating individuals with FH
Borge Nordestgaard, MD also shared insights into the role of lipoprotein(a) which is genetically determined as an additional risk factor for cardiovascular disease in individuals with FH.
"FH is the most common dominant-inherited disorder that kills the most people in the entire world. FH is not a rare disorder, FH is a common disorder."
Børge Nordestgaard, MD
University of Copenhagen
Paradigm Shift: Treatment to Prevention
Depending on the level of severity, FH can have a devastating impact on the cardiovascular health of a child with FH. Early diagnosis and treatment are key to preventing atherosclerosis in those affected by FH, attenuating the life-year exposure to LDL-C.
"FH should be recognized as a disease where medical treatment of heterozygous forms begins at ages 8-10 years and homozygous form begins at diagnosis."
Our Interconnected World of FH
A panel comprised of experts from Japan, South Asia, the Middle East and the U.S. shared insights about the heterogeneity of FH, as well as the gaps in care. Such discussions highlighted the collective efforts to address the unmet needs of this high-risk population.
Panel: Zuhier Awan, MD, PhD, Danish Saleheen, MD, PhD, Macrae Linton, MD, Shizuya Yamashita, MD
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THANK YOU!
The FH Foundation would
like to take this opportunity to convey our deepest gratitude to all who joined to create an environment of collaboration and stand with us in our commitment to add decades of life to families with familial hypercholesterolemia.
"We all see a disorder that is invisible to almost everyone else in the world. If we don't find these individuals, and we don't help them, who else will?"
Katherine Wilemon
Founder and President, FH Foundation
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The FH Foundation is grateful to our most distinguished co-chairs, Drs. Daniel J. Rader and Eric J.G. Sijbrands, and all the members of the 2015 FH Global Summit Steering Committee.
Mackenzie Ames
Seth J. Baum, MD
G. Kees Hovingh, MD, PhD
Stephen L. Kopecky, MD
Pamela B. Morris, MD
Borge G. Nordestgaard, MD
Anne Tybjærg-Hansen, MD, DMSc
Shizuya Yamashita, MD
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Thank You to our 2015 FH Summit Sponsors:
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"The Summit is special in every way - the people gathered here, the developments here and in basic science are unparalleled."
Eric J.G. Sijbrands, MD, PhD
"We can't change policy unless we have data. That's what the foundation is all about. Generating data through research and observation to really be able to ultimately impact policy and patient care. That's what the Registry is about. That's what the new FIND FH™ initiative is about."
Daniel J. Rader, MD
Chief Scientific Advisor, FH Foundation
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Since its launch in 2013 the
CASCADE FH Registry
™
has enrolled over 2700 individuals with FH.
The FH Foundation has published the data from the registry in peer-reviewed journals and presented at medical conferences.
Joshua W. Knowles, MD, PhD
Chief Medical Advisor, FH Foundation
Early results show FH participants in the Registry were not started on statin treatment until age 39, with an FH diagnosis coming much later, at age 47, on average - "a huge missed opportunity for those families."
Average Registry Participant Results:
Thank you to our CASCADE FH Registry
™ Sponsors:
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Dr. Hopkins announced that the FH MEDPED (Make Early Diagnosis, Prevent Early Death) data will be incorporated into the
CASCADE FH Registry
™. The merging of data will allow for an increased understanding of FH patterns and characteristics in the U.S. FH population.
Paul Hopkins, MD
University of Utah
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Innovative Approaches to Identification of FH
With remarkable advances in the scientific understanding of FH, from issues of prevalence to application of genomics, the time to act is now. There is a sense of urgency to find those individuals affected by FH to ensure that they receive adequate and optimal care.
Recognizing that more than 90% of people with FH in the U.S., indeed around the world, are not properly diagnosed, the FH Foundation launched the FIND FH™ initiative in 2015, a cutting-edge national approach to accelerate the rate of diagnosis and improve the care of individuals with FH.
Kelly Myers
Chief Technology Officer, FH Foundation
The FH Foundation presents the geographic distribution of individuals with probable FH in the U.S. at the healthcare provider level:
FIND FH™ takes a three-pronged approach:
1) Develop machine-learning algorithms that can recognize individuals with probable FH in EHR as well as lab and healthcare claims data sets;
2) Search these data sets to identify health care providers who have individuals with probable FH in their practice;
3) Engage those providers to help them identify the individuals with probable FH and deliver appropriate care.
The FH Foundation is deeply committed to identifying and engaging individuals with FH now.
Thank you to our FIND FH™ Sponsors:
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The Role of Novel Therapies in FH Management
PCSK9 inhibition is a promising approach to reducing LDL-C in those with severe heterozygous FH, homozygous FH and those with progressive coronary artery disease.
A panel of global leaders in FH gathered to discuss the inclusion of PCSK9 inhibitors into the armamentarium of therapies, addressing issues surrounding optimal FH management and implications for access.
"This condition is just as devastating [as cancer] and in the prime of life, so how do you put a cost on a life that you would probably save in those patients that are still at very high levels [of LDL]?"
Frederick Raal, PhD
University of the Witwatersrand, South Africa
"With more therapies, more access to genetic insights and more understanding of how common FH is, we have no more excuses. We have an ethical responsibility and an amazing opportunity to change the fate of millions of people around the world to give them and their children a chance at a full life."
Katherine Wilemon
Founder and President, FH Foundation
Health Economics of FH
Health economist Dana Goldman, PhD presented an analysis of the value of treatment for FH and other conditions such as HIV and cancer. "Statins are incredibly valuable drugs. There is a sense that statins are enough." However, there are people on statins who are still at risk and are not meeting target LDL levels.
"The fundamental problem here is that we think about prices the wrong way in healthcare. We talk about prices of inputs. But the good we want is health - What is the price of health?"
Dana Goldman, PhD
University of Southern California
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| Our Mission |
The FH Foundation is a patient-centered nonprofit organization dedicated to education, advocacy, and research of all forms of
Familial Hypercholesterolemia (FH).
Our mission is to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment. If left untreated, FH leads to aggressive and premature heart d
isease in women, men and children of all racial and ethnic backgrounds.
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Thank You to our Corporate Advisory Council Members:
Their contributions encourage and advocate for increased knowledge of FH, earlier diagnosis, optimum treatment, and enhanced scientific understanding of this disease. |
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