家族性乳糜微粒血症综合征的研究进展

Research progress in familial chylomicronemia syndrome

家族性乳糜微粒血症综合征是一种罕见的常染色体隐性遗传疾病,主要由脂蛋白脂肪酶基因突变引起,导致血浆中乳糜微粒浓度和三酰甘油水平显著升高。目前国内尚无有关家族性乳糜微粒血症综合征的诊疗指南,因此本文重点回顾并总结其流行病学、发病机制及临床诊疗进展。

Familial chylomicronemia syndrome is a rare autosomal recessive disease,mainly caused by mutations in the lipoprotein lipase gene,leading to a significant increase of plasma chylomicrons and triglyceride levels.So far there is no guidelines on the diagnosis and treatment of familial chylomicronemia syndrome in China,this review summarized the epidemiology,pathogenesis,and clinical diagnosis and treatment progress of this disease.