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

Sarah D. de Ferranti, Peter Shrader, MacRae F. Linton, Joshua W. Knowles, Lisa C. Hudgins, Irwin Benuck, Iris Kindt, Emily C. O'Brien, Amy L. Peterson, Zahid S. Ahmad, Sarah Clauss, P. Barton Duell, Michael D. Shapiro, Katherine Wilemon, Samuel S. Gidding, William Neal

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)70-77
Number of pages8
JournalJournal of Pediatrics
Volume229
DOIs
StatePublished - Feb 2021
Externally publishedYes

Keywords

  • adolescent
  • child
  • cholesterol
  • statin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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