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"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia.

作者信息

Tsai Hsiao H, Young Jennifer L, Cherny Sara, Ahmed Cat Davis, Khan Sadiya S, Duquette Debra

机构信息

Northwestern University, 645 N Michigan Ave Suite 630, Chicago, IL, 60611, USA.

Rady Children's Hospital - San Diego, 3020 Children's Way, San Diego, CA, 92123, USA.

出版信息

J Community Genet. 2024 Oct;15(5):549-558. doi: 10.1007/s12687-024-00725-8. Epub 2024 Aug 10.


DOI:10.1007/s12687-024-00725-8
PMID:39126536
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11549273/
Abstract

Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.

摘要

相似文献

[1]
"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia.

J Community Genet. 2024-10

[2]
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[3]
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[4]
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[6]
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[7]
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[8]
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[9]
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引用本文的文献

[1]
Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education.

J Community Genet. 2025-2

本文引用的文献

[1]
Screening for Lipid Disorders in Children and Adolescents: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

JAMA. 2023-7-18

[2]
Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.

Matern Child Health J. 2023-6

[3]
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

JAMA Netw Open. 2022-3-1

[4]
Universal Lipid Screening Among 9- to 11-Year-Old Children: Screening Results and Physician Management.

Clin Pediatr (Phila). 2022-3

[5]
Practices and Attitudes Regarding Pediatric Cholesterol Screening Recommendations Differ Between Pediatricians and Family Medicine Clinicians.

Pediatr Cardiol. 2022-3

[6]
Thirty percent of children and young adults with familial hypercholesterolemia treated with statins have adherence issues.

Am J Prev Cardiol. 2021-4-2

[7]
Cascade Screening and Treatment Initiation in Young Adults with Heterozygous Familial Hypercholesterolemia.

J Clin Med. 2021-7-13

[8]
Universal Cholesterol Screening among Pediatric Primary Care Providers within California and Minnesota: A Qualitative Assessment of Barriers and Facilitators.

J Pediatr. 2021-6

[9]
Bridging the Racial Disparity Gap in Lipid-Lowering Therapy.

J Am Heart Assoc. 2021-1-5

[10]
Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the Cascade Screening for Awareness and Detection-FH Registry.

J Pediatr. 2021-2

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