Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador. CLINICAL CASE: A 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.
Keywords: Chylomicron remnants; Chylomicrons; Hipertrigliceridemia; Hypertriglyceridaemia; Lipid metabolism disorders; Lipoprotein lipase; Lipoproteína lipasa; Pancreatitis; Quilomicrones; Remanentes de quilomicrones; Trastornos del metabolismo de los lípidos.
Copyright © 2022. Publicado por Elsevier España, S.L.U.