@article{fb0c9423cbdd44b28c52656eb9561e0b,
title = "Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry",
abstract = "Objective: To describe enrollment characteristics of youth in the Cascade Screening for Awareness and Detection of FH Registry. Study design: This is a cross-sectional analysis of 493 participants aged <18 years with heterozygous familial hypercholesterolemia recruited from US lipid clinics (n = 20) between April 1, 2014, and January 12, 2018. At enrollment, some were new patients and some were already in care. Clinical characteristics are described, including lipid levels and lipid-lowering treatments. Results: Mean age at diagnosis was 9.4 (4.0) years; 47% female, 68% white and 12% Hispanic. Average (SD) highest Low-density lipoprotein cholesterol (LDL-C) was 238 (61) mg/dL before treatment. Lipid-lowering therapy was used by 64% of participants; 56% were treated with statin. LDL-C declined 84 mg/dL (33%) among those treated with lipid-lowering therapy; statins produced the greatest decline, 100 mg/dL (39% reduction). At enrollment, 39% had reached an LDL-C goal, either <130 mg/dL or ≥50% decrease from pre-treatment; 20% of those on lipid-lowering therapy reached both goals. Conclusions: Among youth enrolled in the Cascade Screening for Awareness and Detection of FH Registry, diagnosis occurred relatively late, only 77% of children eligible for lipid-lowering therapy were receiving treatment, and only 39% of those treated met their LDL-C goal. Opportunities exist for earlier diagnosis, broader use of lipid-lowering therapy, and greater reduction of LDL-C levels.",
keywords = "adolescent, child, cholesterol, statin",
author = "{de Ferranti}, {Sarah D.} and Peter Shrader and Linton, {MacRae F.} and Knowles, {Joshua W.} and Hudgins, {Lisa C.} and Irwin Benuck and Iris Kindt and O'Brien, {Emily C.} and Peterson, {Amy L.} and Ahmad, {Zahid S.} and Sarah Clauss and Duell, {P. Barton} and Shapiro, {Michael D.} and Katherine Wilemon and Gidding, {Samuel S.} and William Neal",
note = "Funding Information: The CASCADE-FH Registry has been supported by Amgen . Amgen had no role in any aspect of the preparation or submission of this manuscript. S.dF. receives research support from New England Children's Congenital Heart Foundation , the National Institutes of Health (NIH) and reports other financial support from UpToDate. Z.A. receives research support from the NIH and Regeneron and honoraria from Sanofi and serves as a consultant or on the advisory board for Akcea. E.O. receives research support from the Patient-Centered Outcomes Research Institute , the National Heart, Lung and Blood Institute, Pfizer , Bristol Myers Squibb , Janssen Scientific, Novartis , and Merck and serves as a consultant or on the advisory board for Portola Pharmaceuticals . M.L. receives research support from the NIH ( HL116263 ), Merck , ISIS, Genzyme , Sanofi , and Regeneron and serves as a consultant or on the advisory board for Merck , Retrophin, Amgen , and RegenXBio. M.S. receives research support from the NIH and serves as a consultant or on the advisory board for Novartis , Regeneron , and Esperion. J.K. receives research support from AHA , Amgen , and the Leducq Foundation . P.D. receives research support from Regeneron and Esperion and serves as a consultant or on the advisory board for Akcea, Daichii-Sankyo, Esperion, Kastle, Regeneron , RegenxBio, and Retrophin. The other authors declare no conflicts of interest. ",
year = "2021",
month = feb,
doi = "10.1016/j.jpeds.2020.09.042",
language = "English (US)",
volume = "229",
pages = "70--77",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
}