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

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

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

dc.contributor.author	Lourenco, Charles Marques
dc.contributor.author	Corral, Pablo
dc.contributor.author	Santos, Raul D.
dc.contributor.author	Nogueira, Juan Patricio
dc.contributor.author	Mendivil, Carlos O.
dc.contributor.author	Santos Martín, José Luis
dc.contributor.author	Pachajoa, Harry
dc.contributor.author	Bañares, Virginia
dc.contributor.author	Mattos-Vélez, María Belén
dc.contributor.department	Ciencias de la Salud	es_ES
dc.contributor.department	Osasun Zientziak	eu
dc.contributor.department	Institute on Innovation and Sustainable Development in Food Chain - ISFOOD	en
dc.date.accessioned	2025-04-11T17:25:24Z
dc.date.available	2025-04-11T17:25:24Z
dc.date.issued	2024-04-05
dc.date.updated	2025-04-11T17:12:23Z
dc.description.abstract	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.	en
dc.format.mimetype	application/pdf	en
dc.format.mimetype	application/zip	en
dc.identifier.citation	Lourenço, C. M., Corral, P., Santos, R. D., Nogueira, J. P., Mendivil, C. O., Santos. J. L., Pachajoa, H., Bañares, V., Mattos-Velez, M. B. (2024) Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective. Journal of Inborn Errors of Metabolism and Screening, 12, 1-8. https://doi.org/10.1590/2326-4594-JIEMS-2023-0005.
dc.identifier.doi	10.1590/2326-4594-JIEMS-2023-0005
dc.identifier.issn	2326-4098
dc.identifier.uri	https://academica-e.unavarra.es/handle/2454/53953
dc.language.iso	eng
dc.publisher	Sage
dc.relation.ispartof	Journal of Inborn Errors of Metabolism & Screening, 2024, 12: e20230005
dc.relation.publisherversion	https://doi.org/10.1590/2326-4594-JIEMS-2023-0005
dc.rights	This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
dc.rights.accessRights	info:eu-repo/semantics/openAccess
dc.rights.uri	https://creativecommons.org/licenses/by/4.0/
dc.subject	Familial chylomicronemia syndrome	en
dc.subject	Genomics	en
dc.subject	Genetic analyses	en
dc.title	Considerations for familial chylomicronemia diagnosis in the era of next-generation sequencing: a Latin American perspective	en
dc.type	info:eu-repo/semantics/article
dc.type.version	info:eu-repo/semantics/publishedVersion
dspace.entity.type	Publication
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