FH Global Summit Over 280 people from 24 countries attended the FH Foundation's 7th annual FH Global Summit in Atlanta. With the theme "Familial Hypercholesterolemia as a Prototype for Precision Public Health," presentations illustrated how the advancement in the understanding of genetics and cholesterol as drivers of heart disease have improved the identification and care of FH worldwide. We shared best practices for identification and treatment, from large-scale screening programs to state public health departments and schools, to the 10-country study. In fact, we covered so much ground in the two-day event that we will be sharing our recap and slides in four parts.

View the Slides and Photos from the Summit

"The purpose of this meeting is to catalyze action. And it’s really an honor to work with all of you from around the world year after year and reflect on the progress that we’re making together."  Sincerely,

Katherine Wilemon

Watch all the highlights in the 2019 video

State of FH Dr. Joshua Knowles, Chief Research Advisor for the FH Foundation, highlighted the “State of FH” in the U.S. He announced that 1 5% of individuals with FH have now been diagnosed with FH. Recent data from the CASCADE FH Registry emphasized that individuals with FH are able to meet their LDL cholesterol thresholds if they are taking multiple lipid-lowering therapies.  Strikingly, he showed data from the FH Foundation’s CASCADE FH Patient Portal that focused on how much individuals with FH worry about their health outcomes.

"That's a lot of worry. We need to get patients the therapy they need to take the worry out of their minds." – Joshua Knowles, MD, PhD

Living with FH

In an emotional and riveting session, individual with FH, Kate Robinson, highlighted her family’s journey with FH, including the xanthomas her son’s pediatrician missed and dismissed as a dermatological issue, delaying diagnosis of Homozygous FH for over a year. Despite their son’s diagnosis, Kate’s husband, Dave, was not diagnosed with FH until after a heart attack and switching cardiologists. "To explain that your child has a severe cholesterol disorder does not resonate with people. However, to explain heart disease... people understand that. To say, my child has a 90% blockage in his heart is both scary to say and is real." – Kate Robinson

FH Pioneer Award Catherine Boileau, PharmD, PhD

The FH Foundation presented the 2019 FH Pioneer Award to Catherine Boileau. Professor Boileau has transformed our understanding of familial hypercholesterolemia through her pioneering work in biochemistry and genetics. In 2018, she received the Lefoulon-Delalande Foundation Scientific Grand Prize for her 2003 discovery, in collaboration with Nabil Seidah and Helen Hobbs, on the role of PCSK9 in cholesterol metabolism. In her Pioneer Award presentation, Boileau highlighted the “cornucopia” of drivers for the diverse heterogeneity of

FH. Observing that much like variations in a theme of music, no two individuals with FH are identical, even amongst the large family pedigrees she has studied. Increasingly, we are discovering more about the impact of environment and genetics on driving heart disease risk. When asked if a new dominant gene for FH will be discovered, she responded, “We are missing heritability. We hope to find more gene variations to identify this variability. I am not sure if there are a lot of dominant genes out there.”

Poster Presentation and Awards

The FH Foundation conducted a call for poster abstracts for the first time in 2019, receiving an overwhelming response. Twenty-five posters were accepted and three award winners were announced.

Etienne Khoury, PhD et al. — Newly Identified Biological and Genetic Markers Associated with Cardiovascular Event-Free Survival in Familial Hypercholesterolemia Hayato Tada, MD et al. — Rare and deleterious mutations in ABCG5/8 genes contribute to mimicking and worsening of familial hypercholesterolemia phenotype Samip Sheth et al. — Validation of Flag, Identify, Network, Deliver: FIND FH Using the Electronic Medical Record to Identify Familial Hypercholesterolemia within a Single Healthcare System

Thank you!! 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. Daniel J. Rader and Anne Tybjærg-Hansen, and all the members of the 2019 FH Global Summit Steering Committee: Samuel S. Gidding, MD Muin J. Khoury, MD, PhD Joshua W. Knowles, MD, PhD Gina G. Lundberg, MD Daniel J. Rader, MD Eric J.G. Sijbrands, MD, PhD Laurence S. Sperling, MD, FACC, FAHA Anne Tybj ærg-Hansen , MD, DMSc Katherine A. Wilemon

Thank you to our 2019 FH Global Summit Sponsors