{Reference Type}: Case Reports
{Title}: Familial chylomicronemia syndrome: The first case reported in Ecuador.
{Author}: Garay García KJ;Chong Menendez RJ;Nogueira JP;Piedra Andrade JS;
{Journal}: Clin Investig Arterioscler
{Volume}: 34
{Issue}: 6
{Year}: Nov-Dec 2022 29
暂无{DOI}: 10.1016/j.arteri.2022.08.002
{Abstract}: 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.