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The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discu...

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Autores principales: Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251337/
https://www.ncbi.nlm.nih.gov/pubmed/35795214
http://dx.doi.org/10.3389/fgene.2022.912510
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author Gazzotti, Marta
Casula, Manuela
Bertolini, Stefano
Capra, Maria Elena
Olmastroni, Elena
Catapano, Alberico Luigi
Pederiva, Cristina
author_facet Gazzotti, Marta
Casula, Manuela
Bertolini, Stefano
Capra, Maria Elena
Olmastroni, Elena
Catapano, Alberico Luigi
Pederiva, Cristina
author_sort Gazzotti, Marta
collection PubMed
description Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.
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spelling pubmed-92513372022-07-05 The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group Gazzotti, Marta Casula, Manuela Bertolini, Stefano Capra, Maria Elena Olmastroni, Elena Catapano, Alberico Luigi Pederiva, Cristina Front Genet Genetics Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details. Frontiers Media S.A. 2022-06-20 /pmc/articles/PMC9251337/ /pubmed/35795214 http://dx.doi.org/10.3389/fgene.2022.912510 Text en Copyright © 2022 Gazzotti, Casula, Bertolini, Capra, Olmastroni, Catapano, Pederiva and the LIPIGEN Paediatric Group. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Gazzotti, Marta
Casula, Manuela
Bertolini, Stefano
Capra, Maria Elena
Olmastroni, Elena
Catapano, Alberico Luigi
Pederiva, Cristina
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title_full The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title_fullStr The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title_full_unstemmed The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title_short The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
title_sort role of registers in increasing knowledge and improving management of children and adolescents affected by familial hypercholesterolemia: the lipigen pediatric group
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251337/
https://www.ncbi.nlm.nih.gov/pubmed/35795214
http://dx.doi.org/10.3389/fgene.2022.912510
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