Cascade Screening and Treatment Initiation in Young Adults with Heterozygous Familial Hypercholesterolemia

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Elevated LDL-C in heterozygous familial hypercholesterolemia (HeFH) leads to premature atherosclerotic cardiovascular disease (ASCVD).
• Current guidelines advocate for cascade screening of relatives and early statin therapy initiation (8-10 years old).
• Adherence to these HeFH management guidelines remains suboptimal among healthcare providers.

Purpose of the Study:

• To assess self-reported physician practices regarding cascade screening for HeFH.
• To evaluate physician-reported practices for initiating statin therapy in pediatric patients with HeFH.
• To identify barriers and facilitators influencing HeFH diagnosis and treatment.

Main Methods:

• A survey was administered to 500 primary care physicians and 500 cardiologists.
• The survey collected data on physician practices for cascade screening and statin initiation in HeFH.
• Statistical analysis, including odds ratios, was used to examine factors influencing prescribing behaviors.

Main Results:

• Only 54% of physicians "always" perform cascade screening for HeFH relatives.
• Physicians were more likely to screen based on a strong family history of high cholesterol/ASCVD (68%) or a child of an HeFH patient (74%).
• The majority of physicians would initiate statin therapy between 18-29 years, with limited willingness to treat pediatric patients (14-17%).

Conclusions:

• Physician practices for HeFH cascade screening and early statin initiation deviate significantly from established guidelines.
• A notable gap exists between willingness to screen pediatric patients and initiating recommended treatment ages.
• Enhanced medical education is crucial to improve the diagnosis and management of HeFH, particularly in pediatric populations.