News Release

Family Heart Foundation study shows most familial hypercholesterolemia patients remain undiagnosed

Data highlighted in poster presentation at the American Society for Preventive Cardiology Congress on CVD prevention

Reports and Proceedings

Family Heart Foundation

LOUISVILLE, Ky., July 27, 2022 – The Family Heart Foundation, a leading research and advocacy organization, completed an analysis of its large U.S. Family Heart DatabaseTM showing that while the percentage of patients diagnosed with familial hypercholesterolemia (FH) has increased substantially since 2016, most remain undiagnosed. The data is being presented in a poster titled, “Diagnosis of Familial Hypercholesterolemia: A Work in Progress,” at the American Society for Preventive Cardiology Congress on CVD Prevention on July 29-31 in Louisville, Kentucky.

“Despite clear screening guidelines, classification of FH as a public health threat by the World Health Organization, and the availability of effective therapies, most of the FH population remains undiagnosed, leaving these genetically vulnerable individuals at high risk for premature cardiovascular disease,” said Mary P. McGowan, M.D., chief medical officer, Family Heart Foundation, and study co-author. “It is critical that we continue to differentiate FH from other conditions as management in the first two decades of life can substantially reduce the burden of aggressive atherosclerosis. This analysis shows we are moving in the right direction, but there is still more work to be done.”

Data was analyzed using the Family Heart Foundation’s large, real-world, U.S. healthcare database. The analysis included 197 million people from the U.S. with diagnostic data from claims who were screened or treated for any form of cardiovascular risk from October 2016 through June 2020. The study found that as of June 2020, 31.3% of the estimated 787,886 individuals in the Family Heart Foundation Database who had FH (diagnosed and undiagnosed) had been diagnosed. Patients diagnosed with FH were counted if the diagnostic code was applied for a single in-patient claim or at least twice, more than seven days apart, for an out-patient claim. Published data from 2013 indicated that less than 1% of FH patients in the U.S. were previously diagnosed.[1] In addition, compared with all individuals in the database, those diagnosed with FH were substantially more likely to have ASCVD. 

In 2013, the Family Heart Foundation introduced a proposal to the ICD-10 Coordination and Maintenance Committee to establish an ICD-10 code for FH. The code (E78.01) became effective in October 2016, giving patients with FH a more accurate diagnosis and making it possible to track improvements in the diagnosis rate, as evidenced by this study.

The abstract will be available for viewing throughout the Congress in the Poster Hall.


About Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol from birth. As many as one in 250 people are estimated to have FH. Untreated, FH leads to early heart attacks and heart disease. People with FH have a high amount of low density lipoprotein (LDL) or “bad cholesterol” due to a mutation in one of the genes that controls the way cholesterol is cleared by the body. As a result, cholesterol accumulates in the bloodstream and can ultimately build up in the walls of the arteries, which can lead to problems such as heart attacks and strokes in young adults and even children. Because FH is genetic, when one individual with FH is diagnosed, it is important that all family members are screened for FH.


About the Family Heart Foundation

The Family Heart Foundation is a non-profit research and advocacy organization. The Foundation is a pioneer in the application of real-world evidence, patient-driven advocacy, and multi-stakeholder education to help prevent heart attacks and strokes caused by FH and elevated Lp(a), two common genetic disorders that have an impact across generations. The Family Heart Foundation conducts innovative research to break down barriers to diagnosis and management of inherited lipid disorders; educates patients, providers, and policy makers; advocates for change; and provides hope and support for families impacted by heart disease and stroke caused by FH, HoFH, and high Lp(a). The organization was founded in 2011 as the FH Foundation. For more information, visit and follow us on TwitterFacebookInstagram and LinkedIn.


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[1] Nordestgaard, Børge G et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. European heart journal vol. 34,45 (2013): 3478-90a. doi:10.1093/eurheartj/eht273

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