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

doi:10.1016/j.jpeds.2020.09.042

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

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

15 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 language	English (US)
Pages (from-to)	70-77
Number of pages	8
Journal	journal of pediatrics
Volume	229
DOIs	https://doi.org/10.1016/j.jpeds.2020.09.042
State	Published - Feb 2021

Funding

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. 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.

Keywords

adolescent
child
cholesterol
statin

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2020.09.042

Cite this

de Ferranti, S. D., Shrader, P., Linton, M. F., Knowles, J. W., Hudgins, L. C., Benuck, I., Kindt, I., O'Brien, E. C., Peterson, A. L., Ahmad, Z. S., Clauss, S., Duell, P. B., Shapiro, M. D., Wilemon, K., Gidding, S. S., & Neal, W. (2021). Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry. journal of pediatrics, 229, 70-77. https://doi.org/10.1016/j.jpeds.2020.09.042

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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 = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2021",

month = feb,

doi = "10.1016/j.jpeds.2020.09.042",

language = "English (US)",

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pages = "70--77",

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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 2021, 'Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry', journal of pediatrics, vol. 229, pp. 70-77. https://doi.org/10.1016/j.jpeds.2020.09.042

TY - JOUR

T1 - Children with Heterozygous Familial Hypercholesterolemia in the United States

T2 - Data from the Cascade Screening for Awareness and Detection-FH Registry

AU - de Ferranti, Sarah D.

AU - Shrader, Peter

AU - Linton, MacRae F.

AU - Knowles, Joshua W.

AU - Hudgins, Lisa C.

AU - Benuck, Irwin

AU - Kindt, Iris

AU - O'Brien, Emily C.

AU - Peterson, Amy L.

AU - Ahmad, Zahid S.

AU - Clauss, Sarah

AU - Duell, P. Barton

AU - Shapiro, Michael D.

AU - Wilemon, Katherine

AU - Gidding, Samuel S.

AU - Neal, William

PY - 2021/2

Y1 - 2021/2

N2 - 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.

AB - 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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KW - cholesterol

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

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