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.
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