Abstract MP56: Screening for Familial Hypercholesterolemia: School Based Programs May Be Best Alternative

Abstract

Introduction: Familial Hypercholesterolemia (FH) is an autosomal dominant condition characterized by elevated cholesterol and premature development of cardiovascular (CV) disease affecting 1/200 - 1/500 individuals. Only 10% of the affected population in the United States have been identified and treated compared to 50-70% in Scandinavian countries identified through school-based or universal screening programs. Hypothesis Statement: School based programs are the best mechanism for FH screening. Methods: The Healthy Hearts and Minds Program (HHM) through UCHealth performs biometric screenings on 5th, 7th, and 10th grade students in Northern Colorado. HHM tested 10,991 5th grade students (9/2017 - 5/2022) and identified 424 students with total cholesterol levels ≥200 mg/dL (range 200-302). A buccal smear test (APOB, LDLR, PCSK9) was performed on 99 individuals with the highest total cholesterol levels to identify genetic status. A binomial logistic regression model was used for analysis. Results: Of the 99 students, six tested positive (50% male, 10.3 years, 22.8 BMI) for FH with five (40% male, 11.3 years, 17.3 BMI.) reporting a variant of indeterminate significance. A sigmoidal association between total cholesterol and predicted chance of FH was identified with the inflection point at ~270 mg/dL. Conclusions: Comprehensive school based programs are the most effective and equitable means of identifying this genetic based disease and should be supported in a collaborative manner with health care systems, industry and the community. With availability to all students, diversity, equity, and inclusion concerns are addressed and provide at risk populations with personalized health information. The results from this study suggest a school-based screening program can be effective at identifying students most at risk for FH. These results further define the relation between total cholesterol and predicted chance of FH for a school-aged population where 245 mg/dL indicates a 10.3% of testing positive for FH whereas 275 mg/dL has a 54.8% chance. Additionally, the multiplier effect documented through cascade FH testing enhances the benefit of the information to other family members, as the autosomal dominant pattern insures that 50% of members will be at risk. The individual benefit of identifying FH early is the treatability of this condition. Early use of lipid lowering agents can make the CV disease risk equal to the general population. If left untreated, CV disease occurs approximately 10 years earlier which results in increased mortality and disability, along with increased health care costs. Therefore, if elevated cholesterol is present in school children, genetic testing is warranted and treatment considered by age 8-10 years, especially if signs of abnormal vascular plaquing is identified.