Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Publication/Presentation Date
5-2-2023
Abstract
Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a "real-world" setting. Untreated low-density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL;
Volume
12
Issue
9
First Page
029175
Last Page
029175
ISSN
2047-9980
Published In/Presented At
Cuchel, M., Lee, P. C., Hudgins, L. C., Duell, P. B., Ahmad, Z., Baum, S. J., Linton, M. F., de Ferranti, S. D., Ballantyne, C. M., Larry, J. A., Hemphill, L. C., Kindt, I., Gidding, S. S., Martin, S. S., Moriarty, P. M., Thompson, P. P., Underberg, J. A., Guyton, J. R., Andersen, R. L., Whellan, D. J., … McGowan, M. P. (2023). Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry. Journal of the American Heart Association, 12(9), e029175. https://doi.org/10.1161/JAHA.122.029175
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
37119068
Department(s)
Administration and Leadership
Document Type
Article