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Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry.

Publication ,  Journal Article
de Ferranti, SD; Shrader, P; Linton, MF; Knowles, JW; Hudgins, LC; Benuck, I; Kindt, I; O'Brien, EC; Peterson, AL; Ahmad, ZS; Clauss, S ...
Published in: J Pediatr
February 2021

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.

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Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

February 2021

Volume

229

Start / End Page

70 / 77

Location

United States

Related Subject Headings

  • United States
  • Registries
  • Pediatrics
  • Male
  • Life Style
  • Hyperlipoproteinemia Type II
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Humans
  • Female
  • Drug Utilization
 

Citation

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de Ferranti, S. D., Shrader, P., Linton, M. F., Knowles, J. W., Hudgins, L. C., Benuck, I., … Neal, W. (2021). Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry. J Pediatr, 229, 70–77. https://doi.org/10.1016/j.jpeds.2020.09.042
Ferranti, Sarah D. de, Peter Shrader, MacRae F. Linton, Joshua W. Knowles, Lisa C. Hudgins, Irwin Benuck, Iris Kindt, et al. “Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry.J Pediatr 229 (February 2021): 70–77. https://doi.org/10.1016/j.jpeds.2020.09.042.
de Ferranti SD, Shrader P, Linton MF, Knowles JW, Hudgins LC, Benuck I, et al. Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry. J Pediatr. 2021 Feb;229:70–7.
de Ferranti, Sarah D., et al. “Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry.J Pediatr, vol. 229, Feb. 2021, pp. 70–77. Pubmed, doi:10.1016/j.jpeds.2020.09.042.
de Ferranti SD, Shrader P, Linton MF, Knowles JW, Hudgins LC, Benuck I, Kindt I, O’Brien EC, Peterson AL, Ahmad ZS, Clauss S, Duell PB, Shapiro MD, Wilemon K, Gidding SS, Neal W. Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry. J Pediatr. 2021 Feb;229:70–77.
Journal cover image

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

February 2021

Volume

229

Start / End Page

70 / 77

Location

United States

Related Subject Headings

  • United States
  • Registries
  • Pediatrics
  • Male
  • Life Style
  • Hyperlipoproteinemia Type II
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Humans
  • Female
  • Drug Utilization