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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

PURPOSE OF REVIEW: Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH...

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Autores principales: Medeiros, A. M., Bourbon, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027780/
https://www.ncbi.nlm.nih.gov/pubmed/36862327
http://dx.doi.org/10.1007/s11883-023-01091-5
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author Medeiros, A. M.
Bourbon, M.
author_facet Medeiros, A. M.
Bourbon, M.
author_sort Medeiros, A. M.
collection PubMed
description PURPOSE OF REVIEW: Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide. RECENT FINDINGS: Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains. SUMMARY: Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.
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spelling pubmed-100277802023-03-22 Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone? Medeiros, A. M. Bourbon, M. Curr Atheroscler Rep Article PURPOSE OF REVIEW: Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide. RECENT FINDINGS: Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains. SUMMARY: Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification. Springer US 2023-03-02 2023 /pmc/articles/PMC10027780/ /pubmed/36862327 http://dx.doi.org/10.1007/s11883-023-01091-5 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Medeiros, A. M.
Bourbon, M.
Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_full Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_fullStr Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_full_unstemmed Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_short Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_sort genetic testing in familial hypercholesterolemia: is it for everyone?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027780/
https://www.ncbi.nlm.nih.gov/pubmed/36862327
http://dx.doi.org/10.1007/s11883-023-01091-5
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