Our Research

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 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 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.

Clinical genetic testing for familial hypercholesterolemia

Journal of the American College of Cardiology 2018 |
Sturm, AS, et al.

Delivery of Cascade screening for hereditary conditions: a scoping review of the literature

Health Affairs 2018 | Roberts, M, et al.

Familial hypercholesterolemia patients support groups and advocacy: A multinational perspective

Atherosclerosis 2018 | Payne, J, et al.

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Human Mutation 2018 | Iacocca, MA, et al.

Is diet management helpful in familial hypercholesterolemia?

Current Opinion in Clinical Nutrition and Metabolic Care 2018 | Gidding, S.

US Physician Practices for Diagnosing Familial Hypercholesterolemia: Data from the CASCADE FH Registry

Journal of Clinical Lipidology 2016 | Ahmad ZS, et al.

Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry

Circulation: Cardiovascular Genetics 2016 | deGoma, EM, et al.

Statins in Familial Hypercholesterolemia – Translating Evidence to Action

Journal of American College of Cardiology 2016 | Knowles JW, et al.

Enough Evidence, Time to Act!

Circulation: Cardiovascular Genetics 2016 | 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.