Project Details

Familial hypercholesterolemia (FH) is a genetic disorder and the most common primary lipid disorder of childhood, affecting 1 in 250-350 children. FH causes severely high low-density lipoprotein cholesterol (LDL-C) from birth. If untreated, FH is associated with a two- to four-fold increase in atherosclerotic cardiovascular disease (ASCVD) morbidity and mortality in adulthood, meaning individuals have a high risk of early heart attack, stroke and/or death. Identifying and treating FH early could have a major impact on reducing the burden of ASCVD in the US. Yet currently, ~90% of FH cases are undiagnosed. A new study led by Connell School Assistant Professor, Melissa Uveges, together with BC School of Social Work Assistant Professor, Whitney Irie, and Harvard Medical School/Boston Children’s Hospital Associate Professor, Sarah deFerranti, is one of the first studies to identify determinants of success and strategies to address potential barriers to FH screening in children.

The study team is developing a provider survey, which will be distributed nationally to U.S. pediatric providers, to quantify provider-level preferences and implementation determinants of pediatric FH screening. The study team will also conduct interviews with providers, organizational leaders, and children and families with FH to better understand multi-level barriers influencing the uptake of FH screening for children. The project will culminate with the development of a bundle of strategies to address these multi-level barriers to pediatric FH screening. Findings will inform future implementation-effectiveness trials to drive adoption of a practical childhood FH screening approach for the U.S.