2018 FH Global Summit Highlights

The 2018 FH Global Summit featured fantastic speakers, timely information, and valuable insight about the past, present and future of the way FH is understood, diagnosed, and managed. The summit took place over two days earlier this month and extensively covered multiple facets of progress and projections for everything FH. You can check the FH Foundation’s website for further information, resources, and Summit summaries, but here are some highlights.



David Marais, MB, ChB, FCP(SA), called for a celebration of the progress that has been made in FH research and treatment thus far, but also an examination of how much further there is to go.

Marais stressed that the identification and treatment of undiagnosed individuals with FH is imperative. While sights are set on gene therapy as a potential cure for FH, access and adherence to treatment could save lives in the meantime. He stated that physicians need to be more aware of FH and be able to recognize cases in their patients including via physical signs of FH, though a small percentage of the population develops them.

 “I think everyone needs to know about FH as a severe, treatable condition. Hopefully, in the future, doctors will recognize it and everyone living with it will be diagnosed. Atherosclerosis can be controlled relatively well in most cases, with lifestyle changes and statins. Crises can be avoided”-  Marais

The first moderated panel of the conference expanded upon the same theme. Panelists reiterated the importance of education, awareness, and patient empowerment. An audience member asked if the panel thought that lack of awareness was the primary barrier to all individuals living with FH being diagnosed and treated appropriately. The panel agreed that lack of awareness of diagnostic criteria among general practitioners and a lack of genetic testing are significant factors contributing to the discrepancy between the prevalence of FH and the number of people diagnosed.

“There is a lost opportunity to prevent disease in the next generation. General practitioners lose touch with patients. People don’t think to test children for a parent’s illness. – Marais

The panel discussed implementing a call to action for public health entities to establish awareness of FH as a public health issue. Paul N. Hopkins, MD, MSPH, FNLA, broached some potential roadblocks to cementing FH as an actionable public health issue in the United States.

 “I think we can do better, in awareness and in funding; we have a lot to do.” –Hopkins

Another issue tackled at the summit was ensuring that implementation of research and interventions are both timely and efficacious. David Chambers, DPhil, took the stage to examine specifically how breakthroughs in research can become healthcare, how we can implement what we know sooner rather than later, and how those in research and drug development do not always consider early enough, whether or not their interventions will truly fit the needs of the community.

 “We don’t ask the population early enough what interventions best fit them, what we can develop that will best fit the population, in a way they can use them.”- Chambers

David Chambers quoted; “It takes 17 years to turn 14 percent of original research to the benefit of patient care”. He asserted that the timeline needs to be shorter and more efficient and that researchers need to be careful not to “give a fish a bicycle.” He suggested looking outside the discipline to better learn how to implement what we know. Chambers also stressed the importance of support behind the ongoing delivery of interventions once they are developed and for advocacy groups to be part of the process.

“When we start to think broader beyond precision medicine to personalized medicine, we start to think about what peoples personalized stories are.” – Chambers

Chambers presented a case study to illustrate the numerous burdens that are left to caregivers; from navigating financial burdens, varying opinions from healthcare practitioners, adverse events, and policy barriers. He posed questions for consideration: how can some of the burdens be alleviated? How can parents and caregivers be better equipped to manage them? What interventions need to be implemented? Genetic/genomic tests, information dissemination, educational intervention, monitoring and follow up, preventative care and treatment, or all of the above?

Chambers called for not only an evaluation of how effective interventions are in themselves, but how well they are being implemented, and an approach that allows for traditional assumptions to be adapted as precision medicine continues to evolve.

David Wald, MBBS, MD, FRCP began the second day of the summit by discussing complementary strategies for identifying undiagnosed people living with FH. The startling estimate quoted throughout the event was “only 10% of the FH population is identified”.

“FH needs to be distinguished from high cholesterol for other reasons, in the absence of preventive treatment it can be lethal.” David Wald

Cascade testing alone would identify only 1/5th of the entirety of the FH population, as it will only identify new people from known cases, within families. Therefore, cascade testing is only sustainable if there is a separate method used in tandem to find unrelated cases. These unrelated cases will “feed” the cascade.

The other proposed method was the routine screening for FH in children between one and two years of age. When a patient is identified that way, their parents can then be tested and subsequently cascade testing can begin.

A case study was presented in which one year old Harrison, was screened and diagnosed with FH. His diagnosis ultimately led to five others: his two sisters, his mother, his uncle, and his grandmother. A potential argument against this approach hinges upon the fact that Harrison himself did not immediately begin statins; therefore some may argue that the child does not benefit from early screening. Dr. Wald negates this, as testing the child and parent can prevent premature death of the parent, which is of inherent benefit to the child.

Dr. Wald also discovered unexpected benefits to this methodology; ranging from 90% of identified FH parents beginning treatment to a “potentially higher number of new per known cases[of FH] in subsequent testing” as adults seemed far more motivated concerning the health of their children than they were regarding their own health.

 “We can begin by implementing things locally, on a smaller scale, let people create the change.” – Wald

Gerald F. Watts, DSc, MD, PhD,  further supported cascade testing by citing, among other things, reduction in coronary events and peace of mind for relatives who screen negative.

“The population of undiagnosed FH patients is large enough to make it a public health issue, and to require the involvement of primary care physicians, general practice, but there are barriers.” – Watts

The barriers listed ranged from healthcare literacy, life insurance, poor communication, underutilization of genetic counselling, to healthcare systems and family dynamics.

In essence, Watts asserted that there should be a systematic integrated approach to identifying FH.

Another panel discussion broached the success of screening for Lynch Syndrome and contrasted this with the inadequate screening rates for FH. The question was posed;” Why are people who are at risk for hereditary cancers more likely to be screened?  It was hypothesized that this discrepancy was largely because people are more aware of the risks associated with cancers, and because there can be stigma or shame associated with heart diseases.

Amy C. Sturm, MS, LGC presented Rationale for genetic testing in which she reviewed how genetic testing provides a definitive molecular diagnosis of FH and provides prognostic and risk stratification information in addition to family-based cascade testing, you can learn more about genetic testing and FH here.

Joel W. Hay, PhD, presented “Cost-effectiveness of screening and treatment” and concluded:

 “Over time, the cost of genetic screening is decreasing and the benefits are increasing. Just four years after our initial, pessimistic, result, there is no economic reason not to conduct genetic cascade screening” –  Hay

Targeted Testing is also being implemented to tackle the gap between people living with FH and people who are diagnosed and receiving treatment. Two pilots have been launched at a national level. The first, developed in collaboration with the FH Foundation is FIND FH. Michael Shapiro presented the details: FIND FH is a machine learning algorithm that analyzes data from medical records to identify people who may have FH.

This initiative is HIPPA compliant as the data is identified to the foundation but individuals who are determined to possibly have FH are brought to the attention of their clinicians. Shapiro stated that this initiative is meant to identify eight patients by screening ten, rather than screening 1,760 for the same number of diagnoses. Thus far, it has produced comparable results at national and health system levels. So far a total 103 individuals with FH have been identified via FIND FH and 62% percent would not have been flagged with an LDL cut off alone.

The second approach to targeted screening for FH, via Kaiser EHR system, was presented by Richard Birnbaum, MD. It has identified 70 people who are living with FH and Birnbaum says that they have already learned more about what patients prefer regarding outreach. They currently have an 87% detection rate.

“If we implement this science, we’re going to have success stories, and success stories are going to result in institutional support.” – Birnbaum

Sarah de Ferranti, MD, MPH, presented “Predictors of cholesterol screening and treatment in FH”, discussing the disconnect between screening and treatment rates among adults living with FH and the gaps between prescribing and adherence. She examined how to close the gaps between screening, awareness, and treatment via education, research, and advocacy.

Kelly D. Myers  examined clinical implications of delayed care, stating:

“Access matters, yes, but PERSISTENT access is what matters most.”- Kelly D. Myers

Patient panelists brought first hand poignant experiences to the conference. Little Harrison from the aforementioned case study, and his parents and siblings flew in from London to take part in a moderated discussion, along with Aram Zegerius who flew in from the Netherlands.

Harrison’s mother, Rebecca McKenzie, had opted to allow her son to participate in the screening for FH. Now she and her daughters are able to treat the condition they previously hadn’t know they had.


Aram’s story is unique because his parents were both aware of their high cholesterol and made sure that he was tested shortly after he was born. Aram began statins at age 12 but experienced side effects and is now in a study in hopes that the new treatment will be better.

Another patient, Daniel LoDolce, was brought to the stage in another panel to share his experience with FH. He shocked the audience with his story. Daniel had complained of chest pains to his physician many times, but, because he was only in his thirties, his doctor dismissed his symptoms as heartburn. Daniel was on heart burn medication for three years until he insisted on a treadmill test and an EKG, telling his doctor he couldn’t walk or eat without pain. Shortly after the tests were run, Daniel underwent bypass surgery. Had he not advocated for himself he most likely would have endured a serious, preventable, cardiac event.

The summit concluded with hopeful tones and motivating calls to action.

Keynote speaker Atul Butte, MD, PhD described how analyzing and implementing “big data” could help predict diseases, shed light on rare conditions, assist in the development of new drugs, and lead to more innovation. He stated, “Big data in biomedicine equals hope”.

Check the FH Foundation’s website for more information and ways to get involved.

Samuel S. Gidding, MD, in his presentation “Advocacy Driving Research” stated that advocacy groups, and the FH community  “Bring passion and vision, challenge the status quo, demand innovation, initiate studies, include the patient perspective, utilize patient data entry, and develop meaningful patient-centric study variables and end points.”

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