The adoption of a set of 9 updated public policy recommendations to reduce the clinical and public health burden associated with familial hypercholesterolemia (FH), individual countries can curb atherosclerotic cardiovascular disease (ASCVD) in people who carry a gene that predisposes to FH, according to a global call to action published in JAMA Cardiology.

This call to action was initiated at the Familial Hypercholesterolemia Foundation Global Summit in Marina Del Rey, California, in October 2018. FH experts from 23 countries attended the summit and developed a revised set of recommendations. A second meeting was held during the World Congress of Cardiology and Cardiovascular Health in Dubai in December 2018. Forty countries are now represented in this international coalition, which has also been joined by additional advocacy organizations.

Congress attendees identified and addressed barriers to FH care, discussed ongoing risk stratification research and stressing that future research should address current gaps in knowledge. They noted that there is currently no consensus on when treatment should be initiated. Research strategies specific to individual countries should be implemented to increase physician knowledge about FH and improve treatment adherence. Government support should aim to mandate and optimize medical care in parallel with the work of advocacy organizations to improve FH care.

Continue Reading

Call recommendations include measures to raise awareness of FH as a global public health issue; the establishment of country- and/or region-specific advocacy organizations focused on implementing these recommendations; measures for the screening, testing, and diagnosis of FH according to country-specific conditions and guidelines; improved accessibility to treatment for FH to prevent premature ASCVD; the creation of distinct guidelines for severe and homozygous FH; the development of a family-based care plan; funding for the establishment of national and international FH registries, and for research on the genetic and environmental factors influencing the expression of inherited lipid disorders; and the recognition of the value of FH care for families and society.

“By developing health systems to manage FH, the perfect model case to evaluate both the strengths and limitations of family-centered lifelong prevention will be created,” the researchers concluded. “Evaluating the implementation of programs that initiate simple population screening at young ages and then evolve in complexity to identify individuals who may benefit from new low-cost screening, genetic screening, and then more precise evaluation of family members through targeted cascading of first-degree relatives is both prudent and encompassing. Public awareness of efficient screening paired with providing generic medications for all individuals and improving access to more advanced therapies to those at high risk will serve as a model for how we evaluate the full spectrum of risk for atherosclerotic disease. Tailoring specific and life-saving therapies to those who can benefit most from them is the ultimate goal.”

Related Articles

Disclosure: Several study authors declared affiliations with the pharmaceutical industry. Please see the original reference for a full list of authors’ disclosures.


Wilemon KA, Patel J, Aguilar-Salinas C, et al. Reducing the clinical and public health burden of familial hypercholesterolemia: A global call to action [published online January 2, 2020]. JAMA Cardiol. doi: 10.1001/jamacardio.2019.5173