IMPE Abstracts

Familial hyperchylomicronemia is an autosomal recessive disorder, most often caused by mutation of the LPL gene, located on chromosome 8p22. It is characterized by severe hypertriglyceridemia secondary to chylomicron accumulation: in the absence of lipoprotein lipase (LPL) the hydrolysis of triglycerides is reduced as well as and their release into cells. It is a rare condition with an estimated incidence of 1:500,000 to 1:1,000,000 cases.Case re...