A Decade of Progress in Familial Hypercholesterolemia Awareness, Treatment

What happens when dangerously high cholesterol runs in the family, but no one knows it's there? This pressing question was addressed at the 2024 Family Heart Global Summit, where patient advocate Timothy Ouellette shared his family’s harrowing experience with familial hypercholesterolemia (FH), a genetic disorder that often goes undiagnosed until it's too late.

Ouellette’s journey with FH began when he was just 4 years old. His father, only 32 at the time, suffered a massive heart attack, despite having no visible signs of ill health. His cholesterol levels were later revealed to be around 550 mg/dL, far exceeding healthy levels. By 1985, before age 40, his father underwent a quintuple bypass, which was considered groundbreaking treatment at the time.

“His surgeon told him the night before in the pre-op meeting, which kind of freaked out my mother, ‘if you're alive and here in the morning, I'll see you and we’ll do surgery,’” Ouellette recounted. “They usually said you can get 20 years out of a quintuple bypass in the 80s if you're doing really well.”

Despite the odds, his father lived until he was 65, ultimately succumbing to amyotrophic lateral sclerosis, but his heart had been performing better at the time.

Ouellette himself received an FH diagnosis as a teenager, following an emergency hospital visit that uncovered his own elevated cholesterol levels. Treatment options were limited back then, and he endured the discomfort of niacin-induced flushing during his college years. Ouellette’s experience is tragically common for people with FH. His sister, diagnosed posthumously, passed away at just 34 from an undiagnosed heart condition related to FH, further emphasizing the genetic grip this disease has on families.

Today, Ouellette’s family continues to deal with the implications of FH. His son, diagnosed at 16, is on statins, and his grandchildren are undergoing genetic testing to determine their risk. The emotional and medical toll FH takes on families was evident in Ouellette’s testimony, but his story also underscores the importance of early detection, effective treatment, and strong patient advocacy—a message echoed by the work of the Family Heart Foundation.

The Work of the Family Heart Foundation

Joshua Knowles, MD, PhD, assistant professor of medicine at Stanford University Medical Center, chairman of the board and chief research advisor at the Family Heart Foundation, joined the conversation by providing an update on the progress and initiatives of the Family Heart Foundation.

Joshua Knowles, MD, PhD | Image credit: Sanford Medicine

When the Family Heart Foundation was established in 2012, FH awareness was minimal. There were no specific diagnostic codes, guidelines, awareness days, or support communities for FH or related genetic conditions like elevated lipoprotein(a) (Lp[a]). There was also no national registry for FH, and the less than 1% of people with an official FH diagnosis had limited treatment options. However, thanks to concerted efforts from patient advocates and researchers over the past 12 years, the landscape has changed.

One of the foundational achievements was the creation of the CASCADE FH Registry, a nationwide database that tracks individuals with FH across the country. Since its inception in 2014, it has grown to include data on more than 5000 patients from over 40 clinics, providing invaluable insights into how FH affects individuals over time. This registry has resulted in over 10 research papers, advancing the scientific community’s understanding of FH and informing treatment guidelines.

These papers include research on homozygous and heterozygous FH. One study enrolled adult and pediatric patients with median low-density lipoprotein cholesterol levels of 533 mg/dL and 776 mg/dL, respectively, and revealed that 82% of adults and 87% of children were on just 3 lipid-lowering therapies or fewer.

“Despite aggressive treatment with available therapies, most patients still require additional therapies, and we really need to get this message out there and get people more aware of FH, even in 2024,” Knowles said.

Turning Data Into Action

The Family Heart Database, which now contains health data on over 300 million Americans with 7 to 11 years of follow-up, is the next frontier for Knowles and his team. This robust system links medical claims data with lab results, providing a comprehensive view of how FH and Lp(a) are diagnosed and managed across the US.

A troubling statistic shared by Knowles was that less than 2% of patients with atherosclerotic cardiovascular disease have been tested for Lp(a), a known risk factor for heart attacks and strokes. Worse, just a handful of clinicians are responsible for ordering the majority of these tests, pointing to a significant gap in awareness among health care providers.

“That's something that has got to change if we want to make an impact for patients and individuals with Lp(a),” Knowles emphasized.

Despite the grim statistics, Knowles remains optimistic. The efforts made by the Family Heart Foundation have led to significant strides in addressing FH and Lp(a), including the creation of International Statistical Classification of Diseases, Tenth Revision codes for both conditions. In terms of outreach, the foundation’s awareness campaigns have reached more than 13 million people via social media, and satellite media tours have engaged more than 250,000 individuals. Additionally, the foundation's community has grown to include more than 26,000 members and 230 trained ambassadors across 37 states, with the goal of expanding to all 50. They have also established a searchable map of over 650 health care providers in 40 countries for patients seeking specialized care.

Their ongoing advocacy for innovative therapies and funding continues to play a crucial role in advancing FH awareness and management, emphasizing the importance of community support and collaboration in their mission.

Reference

Knowles J, Ouellette T. Family Heart Foundation progress report: familial hypercholesterolemia in America. 2024 Family Heart Global Summit. Presented September 22, 2024. https://familyheart.org/2024-family-heart-global-summit/agenda