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Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to intervent...

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Autores principales: Henneman, Lidewij, McBride, Colleen M., Cornel, Martina C., Duquette, Debra, Qureshi, Nadeem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934628/
https://www.ncbi.nlm.nih.gov/pubmed/27417810
http://dx.doi.org/10.3390/healthcare3041018
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author Henneman, Lidewij
McBride, Colleen M.
Cornel, Martina C.
Duquette, Debra
Qureshi, Nadeem
author_facet Henneman, Lidewij
McBride, Colleen M.
Cornel, Martina C.
Duquette, Debra
Qureshi, Nadeem
author_sort Henneman, Lidewij
collection PubMed
description Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk of related morbidity and mortality. Cascade genetic testing can subsequently identify at-risk relatives. Accordingly, a number of screening approaches have been implemented for FH in countries including the UK and the Netherlands. However, incomplete identification of cases remains a challenge. Moreover, the potential for early intervention is now raising questions about the value of implementing universal cholesterol screening approaches that focus on children. In this report, we briefly discuss the potential benefit of such screening. Additionally, we submit that ever increasing genome technological capability will force a discussion of including genetic tests in these screening programs. We discuss the opportunities and challenges presented by such an approach. We close with recommendations that the success of such screening endeavors will rely on a better integrated practice model in public health genomics that bridges stakeholders including practitioners in primary care, clinical genetics and public health.
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spelling pubmed-49346282016-07-12 Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs? Henneman, Lidewij McBride, Colleen M. Cornel, Martina C. Duquette, Debra Qureshi, Nadeem Healthcare (Basel) Commentary Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk of related morbidity and mortality. Cascade genetic testing can subsequently identify at-risk relatives. Accordingly, a number of screening approaches have been implemented for FH in countries including the UK and the Netherlands. However, incomplete identification of cases remains a challenge. Moreover, the potential for early intervention is now raising questions about the value of implementing universal cholesterol screening approaches that focus on children. In this report, we briefly discuss the potential benefit of such screening. Additionally, we submit that ever increasing genome technological capability will force a discussion of including genetic tests in these screening programs. We discuss the opportunities and challenges presented by such an approach. We close with recommendations that the success of such screening endeavors will rely on a better integrated practice model in public health genomics that bridges stakeholders including practitioners in primary care, clinical genetics and public health. MDPI 2015-10-26 /pmc/articles/PMC4934628/ /pubmed/27417810 http://dx.doi.org/10.3390/healthcare3041018 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Commentary
Henneman, Lidewij
McBride, Colleen M.
Cornel, Martina C.
Duquette, Debra
Qureshi, Nadeem
Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title_full Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title_fullStr Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title_full_unstemmed Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title_short Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
title_sort screening for familial hypercholesterolemia in children: what can we learn from adult screening programs?
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934628/
https://www.ncbi.nlm.nih.gov/pubmed/27417810
http://dx.doi.org/10.3390/healthcare3041018
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