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.
摘要：
家族性乳糜微粒血症（FCS）是一种常染色体隐性遗传的遗传实体。基因突变（如APOC2，APOAV，LMF-1，GPIHBP-1）编码调节成熟的蛋白质，运输,或聚合脂蛋白脂肪酶-1是最常见的原因，但不是唯一的。本研究的目的是报告厄瓜多尔首例记录在案的病例。临床案例：一名38岁的男子表现为慢性肝脾肿大，血小板减少症,胰腺萎缩,和严重的高甘油三酯血症难以治疗。通过下一代测序进行分子分析,其确定纯合子中脂蛋白脂酶OMIM#238600的缺乏。为了建立HTGS的病因以充分管理这种病理，必须进行遗传确认。
