When it comes to the diagnosis and treatment of familial hypercholesterolemia (FH) and elevated lipoprotein(a), or Lp(a), there are still so many unanswered questions.
What we have learned from our research is impacting peoples’ lives right now. We are using artificial intelligence to address the under-diagnosis of FH. Big data is telling us the consequences of high Lp(a), and our registry collects health data over time to share and educate.
We’ve collaborated with universities, health care systems, government organizations and industries to tackle these significant problems. It’s an honor to partner with leading scientists, researchers, health care providers, and people with FH and high Lp(a) to share insights and experiences. We all have the same goal: More families. More hearts.
The Family Heart Foundation developed FIND FH® to address the critical problem of FH under-diagnosis. Despite simple tests, less than 20% of people with FH have been diagnosed. FIND FH analyzes vast amounts of data by scanning health records and flagging patients with probable FH. Then, they can see a physician to be diagnosed with FH or not.
If one physician randomly evaluated 250 people, they would likely diagnose one person with FH. However, if 250 people identified with FIND FH are evaluated by a physician, approximately 200 people would be diagnosed with FH.
This tool has been used and validated by large health systems across the country. Learn more.
We are harnessing the power of big data to yield new insights into FH and Lp(a) in a real-world setting. The Family Heart Foundation has invested in and are maintaining a National Healthcare Database with vital information for people with FH and elevated Lp(a). The database is HIPPA compliant and all information that would identify a person has been removed.
It contains cholesterol labs from more than 81 million anonymous individuals, and Lp(a) results from about half a million anonymous individuals. This information will be vital in future publications and partnerships.
The Family Heart Foundation established the CASCADE FH® Registry in 2013. Participation has steadily increased since then with more than 6,000 adults and children with FH enrolled today.
This registry meticulously tracks treatments and outcomes. This longitudinal observational research study helps us identify current trends, gaps, and consequences in and around FH diagnosis and treatment.
In 2020, the Family Heart Foundation and our clinical partners analyzed registry data from members under 18 years old and published our findings in the Journal of Pediatrics. This analysis supported the fact that children with FH are diagnosed too late and most do not reach treatment goals. Learn more.
The summit includes both data and patient perspectives that inform and inspire action across a broad, passionate FH community.
In 2020, we adapted to COVID-19 by hosting a virtual summit. We reached more people than ever – over 1,350 people registered. It included 8 webinars. Each featured a renowned speaker, panel discussion, and audience question and answer. Every webinar covered a current and relevant topic in the world of FH and Lp(a). Learn more.
Since 2014, The Family Heart Foundation has published 30 papers. These publications contribute to the evidence base and inform better screening, testing, diagnosis, and treatment of FH. They serve as tools for awareness and advocacy to advance our FH Global Call to Action recommendations.
Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study
Journal of Personalized Medicine 2021 | Jones, L, et al.
Circulation: Cardiovascular Quality and Outcomes 2021 | Samip, S, et al.
The American Journal of Preventative Cardiology 2021 | Myers, K, et al.
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia (IMPACT-FH)
Circulation: Genomic and Precision Medicine 2021 | Campbell-Salome, G, et al.
A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.
the American Journal of Preventative Cardiology 2021 | McGowan, M, et al.
Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry
The Journal of Pediatrics 2020 | de Ferranti, S, et al.
Current Atherosclerosis Reports 2020 | Balla, S, et al.
Journal of Clinical Lipidology 2020 | Gidding, SG, et al.
Journal of Genetic Counseling 2020 | Schwiter, R, et al.
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia - A Global Call to Action
JAMA Cardiology 2020 | Representatives of the Global Familial Hypercholesterolemia Community
Precision screening for familial hypercholesterolemia: a machine learning study applied to electronic health encounter data
The Lancet Digital Health 2019 | Myers, KD, et al.
Circulation: Cardiovascular Quality and Outcomes 2019 | Myers, KD, et al.
npj Digital Medicine 2019 | Banda, JM, et al.
Atherosclerosis 2019 | Duell, PB, et al.
Journal of the American College of Cardiology 2018 |
Sturm, AS, et al.
Health Affairs 2018 | Roberts, M, et al.
Atherosclerosis 2018 | Payne, J, et al.
Human Mutation 2018 | Iacocca, MA, et al.
Current Opinion in Clinical Nutrition and Metabolic Care 2018 | Gidding, S.
Familial hypercholesterolemia patient-determined themes for community-engaged research
Health Education Journal 2018 | DeAngelis, EJ, et al.
Current Opinion: Lipidology 2017 | Kindt I, et al.
Circulation: AHA Journal 2017 | Knowles JW, et al.
JAMA 2017 | Knowles JW, et al.
Atherosclerosis 2017 | Amrock SM, et al.
Journal of Clinical Lipidology 2016 | Ahmad ZS, et al.
Circulation: Cardiovascular Genetics 2016 | deGoma, EM, et al.
Journal of American College of Cardiology 2016 | Knowles JW, et al.
Circulation: Cardiovascular Genetics 2016 | Knowles JW, et al.
Journal of Clinical Lipidology 2015 | Ahmad Z, et al.
Clinical Cardiology 2015 & Journal of American College of Cardiology 2015 | O’Brien EC, et al.
American Journal of Cardiology 2015 | Knowles JW, et al.
Journal of American College of Cardiology 2015 | O’Brien EC, et al.
American Heart Journal 2014 | Knowles JW, et al.
Journal of Clinical Lipidology 2014 | Neal WA, et al.
American Heart Journal 2014 | O’Brien EC, et al.
National Organization for Rare Disorders 2014 | Knowles JW, et al.
As tools like FIND FH® are developed, new challenges emerge. We have learned that improvements in the care of FH and elevated Lp(a) not only require new tools, but also systemic change within large health care systems.
These new models of care use behavioral economics and implementation science to engage health care providers and patients. To ensure successful practices within one health system are quickly learned and copied, The Family Heart Foundation is coordinating The Collaborative Learning Network.