The 2019 FH Summit was a productive and moving event that brought patients and researchers together from all over the world.
Katherine A. Wilemon, founder and CEO of the FH Foundation, welcomed the audience and presented the summit’s theme: A Prototype for Precision Public Health. Wilemon outlined gaps in care within the FH community and how it is necessary to utilize what is already known, while leveraging new data about FH, to close these gaps; posing FH as a prototype for precision public health.
“How can we embrace all stakeholders to make necessary change and become a model for other disease states?”- Katherine A. Wilemon
The summit resounded with a sense of urgency due to the persisting lack of awareness, severe under diagnosis, and inadequate treatment of FH in the majority of the US, and much of the world. Awareness and research in the FH space has made huge strides within the last decade but there is more to be done, luckily, with more resources than were available in the past.
“It’s people who make things happen, but we’re also at an exciting time with what genetics and big data will allow us to do.” – Katherine Wilemon
Joshua Knowles, MD, PhD, stated that despite the implementation of the FH ICD code E78.01, and 197,000 individuals coded with FH, around 80% of patients in every state remain undiagnosed. Of those who have been diagnosed, the use of PCSK9 inhibitors (a new class of drugs which lower LDL) is “startlingly low”.
“We need to give patients the therapy they need and take worry out of their minds as much as we can.” – Joshua Knowles
Dr. Knowles also advocated for the management of FH beginning in childhood. Many people who do receive a diagnosis of FH, receive it later in life, but better outcomes and prevention of CVD correlate with early identification and adequate treatment.
Kate Robinson shared her personal story about how FH has affected her family. She knew several family members had high cholesterol their entire lives but was unprepared for how that genetic history would directly impact her immediate family.
Kate had no inkling anything was wrong with her children until she noticed bumps forming on her oldest son’s skin. She brought him to a pediatrician, and then a dermatologist. Her concerns were assuaged until the mysterious bumps began to grow and multiply. She took him to another appointment with a dermatologist and this time, a biopsy was conducted. She got a call the next day, with devastating news.
The bumps were cholesterol xanthomas. The family had never heard of them before, but quickly learned the serious implications. At just age five, their son had an LDL of almost 900. He had a 90% blockage in his right coronary artery.
“We couldn’t have imagined that a little boy who ran more than he walked could have heart disease.”-Kate Robinson
The family was overwhelmed, and felt guilty for having no idea what was happening within their seemingly healthy son’s body. The wished they had known earlier.
“Had we known about our diagnoses when our son was born, we believe he wouldn’t have the heart disease he has today.”- Kate Robinson
Their son immediately started treatment and two years later, he has received over 80 rounds of apheresis(removal of cholesterol through direct filtration of blood).
The first few months were particularly rough. Their son was filled with anxiety for every trip to the hospital. He would refuse to get out of the car. His parents, witnessing his fear, were heartbroken for him. He slowly adjusted to his new normal, earning the nickname “champ” among the hospital staff.
The life changing news of their son’s diagnosis impacted his siblings directly as well. Both other children were tested and both were found to have higher than normal cholesterol. Their two year old was diagnosed with FH with an LDL of 170, and their 6 month old was diagnosed with HoFH with an LDL of 700.
Their child with HoFH has other health issues that may make her ineligible for apheresis. They are hoping that treatment will be effective enough on its own, and that other options are developed for patients like her. Many people are nervous about putting children on statins, but the Robinsons didn’t have that hesitation – they feared what could happen to their children if they weren’t on treatment.
“We had anxiety about the future and that’s when we turned to the FH foundation. They gave us a sense of community and peace of mind. We could live with FH with the proper medication, and care management team; through the Facebook page we could connect with other families with young children, and received invaluable information that helped us.”- Kate Robinson
In addition to all that their family had to adjust to, regarding the care of their children, Kate and her husband also had to learn to address their own health in this new context.
“When a child has HoFH, a parent also has FH; but as parents, we took a backseat to focus on our children. When we learned about the severity, we learned we had to manage the disease in ourselves too –our children needed us.” – Kate Robinson
Kate’s husband, Dave, knew he had high cholesterol but did not know he had FH. He had been on statins, but was taken off of them after he had chest pains with an LDL over 500. He was put on another medication. Dave continued to have chest pains and, despite his history and the recent diagnosis of his children, his cardiologist told him the pain must be related to heart burn, after conducting a stress test.
After a full year of persistent pain, Dave pushed for an angiogram. He found out he had two blockages in his arteries, at 80 and 85%. He got two stents placed, and a new doctor. He has begun a PCSK9 inhibitor and his cholesterol is now within the normal range.
Their family is grateful to everyone advancing research in treatment options for FH, and for finding, finally, the right care management team.
“Sadly so many individuals have not received the right treatment because doctors haven’t known how FH works.”- Kate Robinson
The Robinson’s have found it difficult to explain a cholesterol disorder to others, finding that heart disease is more easily understood, but that the severity of FH is hard for people to grasp. They also have experienced, firsthand, the lack of familiarity of FH among healthcare practitioners. Kate expressed her gratitude for the experts who attended the summit, and for the FH foundation.
“In addition to awareness and education, the FH Foundation provides hope.” – Kate Robinson
Catherine Boileau, PharmD,PhD, presented the significant range of variability in the presentation of FH, even amongst those with the same mutation. She discussed epigenetic factors such as diet, exercise, and environment. She researched possible drivers of FH variability and the “cornucopia of possible modifiers”. Drivers can be identified via extreme phenotype sampling, family studies, or population studies. She hopes to gain more understanding of the various steps that lead to complications such as atherogenesis.
“By identifying atherogenic drivers, new targets can be developed for new therapies and patients can be profiled to identify who is at risk for more severe disease.” – Dr. Boileau
Muin Khoury, MD, PhD, asserted that the burden of any preventable disease is a tragedy, and technology must be utilized to better figure out who needs what and how to deliver those interventions with the best possible approaches.
Dr. Khoury referenced the health impact pyramid (a series of actions done by individuals, or policy, etc.) to pose that precision medicine in individuals is not going to improve public health by itself without precision medicine throughout the entire pyramid to solve health disparities.
Rear Admiral Betsy Thompson, MD, MSPH, DrPH, presented “Heart Disease Prevention: A Public Health Perspective”, detailing the goal to improve prevention, detection and treatment, and control of FH and mitigate health disparities between ethnic groups and the sexes.
“We must bridge the gap between healthcare and public health and eliminate disparities.” – Betsy Thompson
She emphasized the importance of each step in the process of diagnosis and adequate FH management and the gaps in-between each step where people may be lost to follow-up. She outlined the need for periodic screening, correct classification, determination of treatment eligibility, imparting awareness to the patient of their risk, and the importance of treatment and adherence to it.
Dr. Thompson also discussed the development of clinical guidelines and algorithms to identify high risk patients who are not on statins, learn about provider attitude, and patient resistance to statin use.
In, Implementing FH Care- Perspectives from the “10 Country Study”” presented by Raul Santos, MD, MSc, PhD, large gaps in FH diagnosis by country were illustrated. Dr. Santos stated that patient perceptions and literacy were key for improving care, and that a major barrier to diagnosis was a lack of awareness of FH amongst general practitioners.
Laura Hayman, PhD, MSN presented “Prevention in Youth: Are We There Yet?” discussing the importance of primordial & primary prevention in optimizing cardiovascular health for all children /youth. She posed schools as critically important venues for population based cardiovascular health promotion and preventative cardiovascular care.
Amy Peterson, MD presented “Bridging Pediatric and Primary Care.” Dr. Peterson outlined two issues with skipping lipid screening in the 9-11 age range and waiting instead until 18-21 years old to screen:
- Patients potentially miss treatment during that time if they do have a cholesterol issue
- Fewer 18-21 year olds go to the doctor –visits plummet after age 17
Fátima Rodriguez, MD, MPH presented “Statin Adherence and its Consequences” and outlined that many patients don’t understand what the risks are with high cholesterol and won’t necessarily take it seriously until they suffer a cardiac event. Many patients who do not adhere to statins have poor health literacy, are unsure why statins are important, are worried about side effects, or want to take medicine temporarily and not long term. There are also many cases of non-adherence or inadequate statin use that are physician and healthcare system related including: failure to prescribe, failure to intensify statins, lack of monitoring of usage, limited access to care, and high copayments.
Laurence S. Sperling, MD presented “Disparities in Care”, noting that there is not much published relating to disparities in healthcare related to FH and yet health has been found to vary at local levels with women being diagnosed later than men. It was deemed unlikely that FH is less prevalent in minority groups, but the ratio of diagnosed patients does not match census data.
“We know there are clear disparities both in health and healthcare. These, in addition to the science, technology, and the implementation, remain a great challenge.”-Laurence Sperling
Sandra Murphy took the stage to share her journey with FH. When she was first was made aware that she had high cholesterol she thought she just needed to go to gym more. At some point, Sandra noticed bumps appearing on the back of her heels and went to an orthopedist. The doctor told her the bumps were just from wearing high heeled shoes.
Sometime later, Sandra took her two year old son to his pediatrician and he discovered that his cholesterol was over 400. He asked her if she had noticed any bumps on her son. She asked him if he meant bumps like the ones she had on her feet. He replied, yes, that’s cholesterol. Sandra had difficulty finding treatment that worked for her, and then she moved and didn’t have insurance.
She felt like she was okay, until she suddenly suffered a heart attack. Sandra needed bypass surgery for her blockages and then found herself coming into the hospital every few months for cardiac catheterizations for a total of 18 blockages. Sandra then found an expert in FH and has been working to get her levels under control.
FH continues to affect her family in immeasurable ways. Sandra and her husband lost one of their daughters to a cardiac event and are now raising their grandchildren.
Sandra Murphy spreads awareness about FH frequently, and, in fact, referred to her apheresis port as a great conversation starter. She knows many people with high cholesterol who had never heard about FH until she shared her story.
Increased awareness is crucial for progress within the FH community. The summit concluded with the efforts that have been made and the next steps that need to be taken. Since 2012, a national registry for FH has been developed, an awareness day has been designated, a support community formed, professionally guidelines developed, and a novel therapy approved. The FH community is taking stock of their action items to further the cause of FH awareness, identification, earlier diagnosis, and adequate treatment.
First and foremost, the focus is on the identification of undiagnosed patients. FindFH published a paper during the event that illustrated that AI can be utilized to identify FH patients via electronic medical records far more efficiently than traditional methods.
As the event came to a close, these strides were recognized and pushed to be implemented on a wider scale, but the question of what else can be done was also posed.
It was suggested that a genome first approach could complement machine learning approach to identifying FH patients.
It was stated that it is time to redefine FH – as not just a mutation in one of three genes, not just common variants causing high cholesterol, but a more complicated genetic architecture.
Children and young adults should be identified, screened, put on appropriate therapy, and adherence to that therapy should be monitored and addressed. There is a goal of acquiring more longitudinal data.
Disparities around FH, racially, ethnically, and by sex, are big issues that deserve more data and focus regarding what needs to be addressed and how these disparities can be overcome.
The FH Foundation executed another organized and driven event. It was recognized that the Foundation plays an important convening role for different approaches and points of view within the ecosystem of FH, and that it fosters discussion and collaboration.
“There isn’t just one way to find FH or to help people with FH. It is important to remember what we have in common, why we’re here, and why we do what we do, and know that, no matter your role, you are able to contribute. The next generation’s story will be very different.”– Katherine Wilemon
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