Midterm Follow-Up of Familial Hypercholesterolemia from a Cross-Sectional School-Based Cholesterol Screening Program.

Area of Science:

• Cardiovascular disease prevention
• Pediatric lipidology
• Public health screening programs

Background:

• The Coronary Artery Risk Detection in Appalachian Communities (CARDIAC) project identified cardiometabolic risk factors in children.
• Elevated low-density lipoprotein cholesterol (LDL-C) in children may indicate familial hypercholesterolemia (FH).
• Effective follow-up systems are essential for managing identified health risks in pediatric populations.

Purpose of the Study:

• To determine the follow-up status of West Virginia children identified with probable familial hypercholesterolemia (FH) through school-based screening.
• To investigate the extent of medical care and lipid management in children diagnosed with probable FH.
• To evaluate the effectiveness of the CARDIAC project's screening in facilitating timely and appropriate follow-up care.

Main Methods:

• Utilized electronic health records, phone calls, and mail surveys to track 398 children with probable FH from the WV CARDIAC Project (1998-2016).
• Collected data on medical care, cholesterol-lowering medication (CLM) use, and family history of cardiac events.
• Analyzed follow-up lipid panels and healthcare interactions post-screening.

Main Results:

• Only 19% of children with probable FH received follow-up lipid panels.
• 46% of participants had no recorded healthcare interaction after initial screening.
• Among those not on cholesterol-lowering medication, LDL-C levels significantly decreased post-screening, but overall engagement with preventive care was suboptimal.

Conclusions:

• A suboptimal midterm effect of FH identification was observed in fifth graders.
• Universal screening programs, like WV CARDIAC, require integrated follow-up systems.
• Engaging primary providers, parents, and children is vital for implementing life-saving preventive practices for FH.