Proceedings of the Family Heart Foundation’s inaugural Familial Hypercholesterolemia Summit: AWARENESS TO ACTION

The first global FH Summit: Awareness to Action was conceived and organized by the Family Heart Foundation to:  1.  Raise awareness of FH as a public health concern and 2. To formulate actionable recommendations to help embed FH in a strong public health movement, bringing attention to this common but underdiagnosed and undertreated disease.

The meeting was co-chaired* by Dr. Muin Khoury (CDC, Office of Public Health Genomics) and Dr. Dan Rader (University of Pennsylvania).  With the help of a very active and well-respected steering committee** including lipidologists, public health experts, geneticists and patients, the Family Heart Foundation brought together world-renowned experts from 11 countries. These included the United States, Canada, England, Wales, Spain, the Netherlands, Japan, Brazil, Australia, South Africa, and China, representing not only the medical and scientific community but also governmental organizations (NHLBI, CDC, several State Departments of public health), professional organizations (NLA, ASPC, PCNA, WomenHeart) healthcare organizations (Kaiser Permanente), pharmaceutical companies, diagnostic testing companies and payers.  In addition there was active participation of individuals with FH representing the patient perspective throughout the meeting.

  The Summit’s participants were asked to address the following issues: 

  • Review existing diagnostic criteria with the goal of determining those with the greatest potential for public health impact and recommend simple tools for increasing rates of early detection and management of FH.
  • Define approaches for population-wide cascade screening programs in the United States.
  • Evaluate the role of genetic testing in enhancing cascade screening efforts.
  • Share opportunities for harmonization of FH disease registries in different regions, to maximize their potential to improve public health, patient outcomes and research.
  • Discuss ways to measure progress and recommendations for future research.

Through short (but dynamic) presentations from international experts as well as facilitated panel discussions the group exchanged information on evidence-based best practices for early identification, genetic screening, and treatment of patients with FH. The coalescence of these groups led to concrete plans of action enumerated below.  The Summit culminated in the launch of the Family Heart Foundation’s national patient registry (CASCADE FH) when the first FH patient enrolled on site during the meeting.

Specific Action Items and Takeaways included:

  • Organize and lobby for a public health awareness campaign [in progress through the Family Heart Foundation]
  • Increase FH awareness with the public and healthcare professions [in progress through the Family Heart Foundation]
  • Establish a public-health “friendly” case definition for familial hypercholesterolemia [commenced by the Family Heart Foundation with domestic and international leaders]
  • Strong lobbying effort for a specific ICD-10 coding [in progress through an Family Heart Foundation collaboration with the NLA]
  • Encourage systematic searches of EMRs across the country and work to have FH included in HEDIS measures [in progress through the Family Heart Foundation]
  • Encourage the inclusion of cascade screening in AAP/NHLBI pediatric lipid guidelines
  • Add FH to the WHO screening criteria
  • Development of pilot projects to demonstrate effectiveness and cost effectiveness
  • Initiate multi-faceted outreach campaign to encourage patient and provider recruitment in CASCADE FH Registry [in progress through the Family Heart Foundation]

Download full proceedings paper here

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