Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach

Abstract The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS is caused by lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL or other related genes. Here, we report a case of s...

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Bibliographic Details
Main Authors: Eduardo Esteban, Daniel Aimone
Format: Article
Language:English
Published: SciELO 2023-08-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100504&tlng=en