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FH Awareness Day 2023: Shedding light on a rare cardiovascular disease

24 Sep 2023

Familial hypercholesterolemia, commonly referred to as FH, is a genetically inherited condition causing raised cholesterol from birth. Untreated, lifelong exposure to elevated concentrations of low-density lipoprotein (LDL) cholesterol leads to premature heart disease and untimely deaths.  

FH remains a severely underdiagnosed and undertreated disease that affects approximately 1 in 311 people or about 25 million individuals globally. This year, the World Heart Federation shines a spotlight on homozygous familial hypercholesterolemia (HoFH), a particularly rare and life-threatening form of FH, affecting 1 in 300,000 people, or nearly 30,000 individuals worldwide. 

Early detection and treatment are crucial in managing and preventing premature heart disease associated with FH and HoFH. If left untreated, individuals living with HoFH will experience a major cardiovascular event before 20 years of age, or sometimes even during childhood. Alarmingly, data reveal that only 10% of people living with FH receive a diagnosis. In the case of HoFH, the figure plummets to less than 5%. Evidence also suggests that individuals affected by HoFH are typically diagnosed late, on average at 12 years of age, and often receive suboptimal care.  

HoFH is a unique condition, which necessitates not only early detection but also highly specialized care. Many individuals living with HoFH may prove unresponsive to traditional cholesterol-lowering interventions and may require novel, and often expensive, therapies. Thus, many renowned experts have advocated for the development of tailored screening and management strategies for HoFH. 

Rare cardiovascular diseases, such as HoFH, are frequently underdiagnosed and undertreated due to low levels of awareness and understanding among both healthcare professionals and the general population as well as due to the absence of systematic screening strategies. As such, the World Heart Federation (WHF) convened its inaugural Rare Cardiovascular Diseases Forum in May 2023, which provided a platform for researchers, policymakers, patient advocates, and leaders from both the cardiovascular health and rare diseases communities to identify priorities for action and formulate plans to address challenges related to the diagnosis, treatment, and care of individuals living with rare cardiovascular diseases, including HoFH. 

On FH Awareness Day, the World Heart Federation urges all stakeholders to: 

  • Raise awareness about FH and HoFH, among the public at large and healthcare professionals, highlighting the importance of screening. 
  • Educate healthcare professionals on the detection, management, and care for FH and HoFH. 
  • Implement universal pediatric screening for FH, with tailored strategy 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. 
  • Establish HoFH registries to advance our understanding of HoFH. 

The voices of individuals with lived experience are paramount in addressing the burden of FH and HoFH. WHF believes that patient advocacy groups and patient ambassadors play a pivotal role in empowering peers, improving care, and influencing policies. Therefore, patient organizations are invaluable and irreplaceable partners in promoting cardiovascular health for everyone. 

WHF has developed a number of key materials and resources on raised cholesterol and familial hypercholesterolemia, including our WHF White Paper on Raised Cholesterol, Preliminary Analysis Report on the WHF & FH Europe Country Mapping Survey, WHF Roadmap for Cholesterol, WHF Cholesterol Advocacy Toolkit. 

If you are interested in learning more about our work on FH or supporting our action, please visit our FH webpage or contact [email protected].