Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective
J. inborn errors metab. screen
; 12: e20230005, 2024. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1558298
Responsible library:
BR1.1
ABSTRACT
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2024
Document type:
Article
Affiliation country:
Argentina
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Brazil
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Chile
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Colombia
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Cuba
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Ecuador
Institution/Affiliation country:
Centro Nacional de Genética Médica/AR
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FASTA University/AR
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Faculdade de Medicina de São José do Rio Preto/BR
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Hospital de Especialidades Carlos Andrade Marín/EC
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Pontificia Universidad Católica de Chile/CL
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Universidad Icesi/CO
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Universidad Nacional de Formosa/AR
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Universidad de los Andes/CO
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Universidade de São Paulo/BR