Familial Hypercholesterolemia Awareness Day 2024

The World Heart Federation (WHF) is excited to join the international FH community in celebrating FH Awareness Day 2024.

Familial Hypercholesterolemia (FH) remains a vastly underdiagnosed and undertreated condition that affects approximately 1 in 311 people - around 25 million individuals globally. In 2020, WHF and representatives from the global FH community issued a call to action - Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia- urging all stakeholders to implement nine key recommendations to further prevent premature cardiovascular morbidity and mortality. One critical recommendation highlighted the need to develop specific guidelines for homozygous familial hypercholesterolemia (HoFH), with a strong focus on strategies for the identification, diagnosis, management, and care of affected individuals.

HoFH is an ultra-rare genetic condition characterized by extremely high and life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth. The disorder affects approximately 1 in 300,000 people - around 30,000 individuals globally. In the absence of treatment, individuals living with HoFH typically present symptoms of advanced atherosclerotic cardiovascular disease and/or aortic stenosis before 20 years of age. As such, early detection and treatment are crucial in preventing and managing premature heart disease associated with HoFH. Alarmingly, data from registries reveal that fewer than 5% of people living with HoFH worldwide receive an accurate and timely diagnosis.

Evidence suggests that a combination of universal pediatric screening and cascade screening strategies constitutes an effective approach to identifying heterozygous familial hypercholesterolemia (HeFH). Nonetheless, HoFH and its complications manifest much earlier in life. To date, little focus has been placed on the detection of HoFH in infants and/or very young children.

WHF published an original paper- It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States- which reviews global best practices for HoFH screening and proposes a set of actionable measures that US states- as well as other countries - can adopt to reduce the burden of HoFH. In line with the 2023 Updated European Atherosclerosis Society Consensus Statement on HoFH, which recommends screening strategies specific to HoFH, our paper outlines key research and policy gaps that must be addressed to pave the way for universal newborn screening for HoFH in the United States.

The findings were presented in a WHF Heart Cafésession, where panellists deliberated on the implementation of screening guidelines, low diagnosis rates, and policy landscape for HoFH in the United States.

On FH Awareness Day, WHF calls on all stakeholders, once again, to:

• Raise public and healthcare professional awareness of FH and HoFH, highlighting the importance of early screening;
• Educate and train healthcare professionals on detecting, managing, and caring for individuals living with FH and HoFH;
• Implement universal pediatric screening for FH, with tailored strategies for HoFH, in combination with reverse cascade screening of first- and second-degree relatives;
• Ensure that care for people living with HoFH is available, accessible, affordable, and supported by proper referral pathways; and
• Establish HoFH registries to improve management and care.

WHF remains committed to its vision of Cardiovascular Health for Everyone. We have developed a range of key materials and resources to support our mission, including our WHF White Paper on Raised Cholesterol, Preliminary Analysis Report on the WHF & FH Europe Country Mapping Survey, WHF Roadmap for Cholesterol, and WHF Cholesterol Advocacy Toolkit. 

For more information, please visit our FH webpage or contact us at [email protected].