- Creation and adoption of a simplified case definition (in addition to formal diagnostic criteria) to help identify potential FH patients, thereby triggering appropriate work-up and treatment.
- Publication of U.S. based scientific statement for FH.
- Adoption of an FH-specific ICD-10 code. (ICD-9 codes for dyslipidemia, such as code 272.0, are not specific for FH and are usually applied to individuals with â€œgarden varietyâ€ LDL-C elevations.) An ICD-10 code specifically applied to FH will allow optimal treatment for individuals with FH, help with screening of family members, and increase the ability to track FH patients through electronic health record searches based on ICD-10 codes.
- Establishment of a national FH patient registry. Lack of an actively enrolling patient registry has impeded the ability to collect contemporary data on FH in the United States.
Just 4 years ago, one of us (MJK) co-chaired the Familial Hypercholesterolemia (FH) Foundationâ€™s first FH Global Summit: Awareness to Action held in Annapolis, Maryland. The Summit brought together people from academia, government, the private sector, clinicians, as well as patients with the ambitious goals of raising awareness of FH, identifying key knowledge gaps, and developing tangible solutions to address these gaps. A product of the Summit was a paper entitled, Reducing the burden of disease and death from familial hypercholesterolemia: A call to action. The action plan identified a number of solutions largely centered on the mantra of â€œwhat is measured gets done.â€ The plan included: