Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective

Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by increased levels of plasma triglycerides. It has been shown that about 60-90% of FCS patients have biallelic mutations in the LPL gene and the remaining p...

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Autores: Lourenco, Charles Marques, Corral, Pablo, Santos, Raul D., Nogueira, Juan Patricio, Mendivil, Carlos O., Santos Martín, José Luis, Pachajoa, Harry, Bañares, Virginia, Mattos-Vélez, María Belén
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad Pública de Navarra
Repositorio:Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
OAI Identifier:oai:academica-e.unavarra.es:2454/53953
Acceso en línea:https://hdl.handle.net/2454/53953
Access Level:acceso abierto
Palabra clave:Familial chylomicronemia syndrome
Genomics
Genetic analyses
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spelling Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspectiveLourenco, Charles MarquesCorral, PabloSantos, Raul D.Nogueira, Juan PatricioMendivil, Carlos O.Santos Martín, José LuisPachajoa, HarryBañares, VirginiaMattos-Vélez, María BelénFamilial chylomicronemia syndromeGenomicsGenetic analysesFamilial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by increased levels of plasma triglycerides. It has been shown that about 60-90% of FCS patients have biallelic mutations in the LPL gene and the remaining patients have mutations in genes encoding proteins closely related to LPL function. The objective of this manuscript is to illustrate the different clinical scenarios of FCS presentation, and to guide practitioners on the usefulness of genetic tests in each of them. To this end, several published papers about recommendations for the diagnosis of FCS are discussed briefly, in addition to the presentation of several hypothetical cases, highlighting different clinical presentations and possible associated genetic findings. These cases illustrate the multiplicity of potential aspects of family history, clinical manifestations, biochemical parameters, and patterns of genetic variants found in genomic analyses of FCS.SageCiencias de la SaludOsasun ZientziakInstitute on Innovation and Sustainable Development in Food Chain - ISFOOD2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/ziphttps://hdl.handle.net/2454/53953reponame:Academica-e. Repositorio Institucional de la Universidad Pública de Navarrainstname:Universidad Pública de NavarraInglésThis article is distributed under the terms of the Creative Commons Attribution 4.0 License.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:academica-e.unavarra.es:2454/539532026-06-17T12:41:47Z
dc.title.none.fl_str_mv Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
title Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
spellingShingle Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
Lourenco, Charles Marques
Familial chylomicronemia syndrome
Genomics
Genetic analyses
title_short Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
title_full Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
title_fullStr Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
title_full_unstemmed Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
title_sort Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective
dc.creator.none.fl_str_mv Lourenco, Charles Marques
Corral, Pablo
Santos, Raul D.
Nogueira, Juan Patricio
Mendivil, Carlos O.
Santos Martín, José Luis
Pachajoa, Harry
Bañares, Virginia
Mattos-Vélez, María Belén
author Lourenco, Charles Marques
author_facet Lourenco, Charles Marques
Corral, Pablo
Santos, Raul D.
Nogueira, Juan Patricio
Mendivil, Carlos O.
Santos Martín, José Luis
Pachajoa, Harry
Bañares, Virginia
Mattos-Vélez, María Belén
author_role author
author2 Corral, Pablo
Santos, Raul D.
Nogueira, Juan Patricio
Mendivil, Carlos O.
Santos Martín, José Luis
Pachajoa, Harry
Bañares, Virginia
Mattos-Vélez, María Belén
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Ciencias de la Salud
Osasun Zientziak
Institute on Innovation and Sustainable Development in Food Chain - ISFOOD
dc.subject.none.fl_str_mv Familial chylomicronemia syndrome
Genomics
Genetic analyses
topic Familial chylomicronemia syndrome
Genomics
Genetic analyses
description Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by increased levels of plasma triglycerides. It has been shown that about 60-90% of FCS patients have biallelic mutations in the LPL gene and the remaining patients have mutations in genes encoding proteins closely related to LPL function. The objective of this manuscript is to illustrate the different clinical scenarios of FCS presentation, and to guide practitioners on the usefulness of genetic tests in each of them. To this end, several published papers about recommendations for the diagnosis of FCS are discussed briefly, in addition to the presentation of several hypothetical cases, highlighting different clinical presentations and possible associated genetic findings. These cases illustrate the multiplicity of potential aspects of family history, clinical manifestations, biochemical parameters, and patterns of genetic variants found in genomic analyses of FCS.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2454/53953
url https://hdl.handle.net/2454/53953
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/zip
dc.publisher.none.fl_str_mv Sage
publisher.none.fl_str_mv Sage
dc.source.none.fl_str_mv reponame:Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
instname:Universidad Pública de Navarra
instname_str Universidad Pública de Navarra
reponame_str Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
collection Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
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