APA
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Cuchel, M., Lee, P. C., Hudgins, L., (...), Bourbon, M., Chora, J., … McGowan, M. (2023). Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry. Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 12(9), e029175. https://doi.org/10.1161/JAHA.122.029175
Chicago/Turabian
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Cuchel, M., Paul C Lee, L. Hudgins, (...), M. Bourbon, J. Chora, D. Rader, J. Knowles, K. Wilemon, and M. McGowan. “Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.” Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease 12, no. 9 (May 2, 2023): e029175.
MLA
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Cuchel, M., et al. “Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.” Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, vol. 12, no. 9, May 2023, p. e029175, doi:10.1161/JAHA.122.029175.
BibTeX Click to copy
@article{m2023a,
title = {Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.},
year = {2023},
month = may,
day = {2},
issue = {9},
journal = {Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease},
pages = {e029175},
volume = {12},
doi = {10.1161/JAHA.122.029175},
author = {Cuchel, M. and Lee, Paul C and Hudgins, L. and (...) and Bourbon, M. and Chora, J. and Rader, D. and Knowles, J. and Wilemon, K. and McGowan, M.},
month_numeric = {5}
}
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; P=0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.
