Emory doctors join forces with the Family Heart Foundation to help patients with familial hypercholesterolemia - News-Medical.Net

Doctors from the Emory Heart & Vascular Center are joining forces with the Family Heart Foundation, a leading research and advocacy organization, to find and more widely treat undiagnosed patients living with a common genetic condition that causes very high levels of unhealthy cholesterol, heightening the risk for heart attacks and strokes even at a young age.

The condition, called familial hypercholesterolemia (FH), has long flown under the medical radar. Although it's one of the most common genetic causes of early heart attacks and premature coronary heart disease, FH is dramatically underdiagnosed in patients. Studies suggest that one in 250 people have FH but that only about 30 percent of those individuals will receive a formal diagnosis.

Without proper treatment, impacted individuals have up to a 20-fold increased risk of a heart attack or development of premature coronary artery disease. As part of the new collaborative project, Emory Heart & Vascular Center will use the Family Heart Foundation's innovative machine-learning technology, FIND FH^®, to identify and screen individuals at risk.

"Critical to preventing heart attacks and strokes is identifying those at high risk and ensuring they get the appropriate treatment and care," says Danny Eapen, MD, a preventive cardiologist and lipid specialist at Emory Healthcare, who is leading the initiative. "Our aim is to accelerate identification of those at genetically high risk due to FH by incorporating this novel precision screening tool." Eapen is also an assistant professor in the Department of Medicine at Emory University School of Medicine.

The new initiative, called Emory FIND FH (Flag, Identify, Network and Deliver FH), will analyze health data of existing patients within the Emory Healthcare system and flag individuals suspected of having FH. Once identified, patients and their primary care provider will be contacted about further evaluation and tailored follow-up care.

Since we developed the tool, we have successfully collaborated with health systems to apply the FIND FH model within their electronic health records and effectively bring FH patients into care, saving generations of families from early heart disease and stroke. We are excited to work with Emory to accelerate screening of those most at risk for FH and ensure timely diagnosis and early intervention."

Katherine Wilemon, Founder and CEO, Family Heart Foundation

Individuals with FH often have high cholesterol levels from birth, caused by a mutation in one of the genes that regulates the processing of cholesterol in the body. As a result of this mutation, cholesterol is not adequately cleared, leading to high levels of low-density lipoprotein cholesterol (LDL-C) or "bad cholesterol" in the bloodstream. While the cardiovascular disease associated with FH can be life-threatening if left untreated, it is largely preventable with early detection and treatment.

The FIND FH model leverages a health care database of national health care encounters from more than 272 million individuals in the United States being treated or evaluated for cardiovascular disease. The initiative also includes a HIPAA-compliant outreach program targeting health care providers so they can receive identification of the individuals with probable FH in their practice. According to a study published in the journal Lancet Digital Health in 2019, the FIND FH algorithm is validated and found to correctly identify individuals with probable FH eight out of 10 times.

"Having seen the success of the FIND FH model in identifying individuals with FH at several other academic research institutions, we are excited for Emory Healthcare to join this important IT-health systems-based approach to accelerating cardiovascular disease prevention in this high-risk population," says Laurence Sperling, MD, professor in the Department of Medicine at Emory and founder of the Emory Center for Heart Disease Prevention.

The Emory FIND FH project's educational initiative strives to raise awareness of FH throughout Emory Healthcare by engaging patients and clinicians through webinars, clinician-to-clinician e-consultations and educational modules hosted on an interactive website. The initiative will serve as a resource that will deepen a patient's understanding of FH and bolsters clinical support to empower primary care clinicians in treating FH.

Throughout the treatment process, members of the clinical team will not only assess patient and clinician knowledge and attitudes toward FH through periodic surveys and assessment tools, but also track real-time corresponding changes in clinical practices through monitoring individual care plans and outcomes, such as prescription practices, referral patterns or laboratory results.

At least four other health systems are also implementing FIND FH and have entered a collaborative learning network organized by the Family Heart Foundation so that all health systems can learn from each other.

Family Heart Foundation

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