title: A case of adolescent hyperlipoproteinemia with xanthoma and acute pancreatitis, associated with decreased activities of lipoprotein lipase and hepatic triglyceride lipase.
abstract: Lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL) enhance the hydrolysis of triglycerides (TG) transported by chylomicron (CM) and very-low-density lipoprotein (VLDL). We report a case of severe hyperchylomicronemia with high levels of remnant lipoprotein and total cholesterol (T-Chol) in a 15-year-old boy. Precise examination of the lipid profile showed decreased activities of both LPL and HTGL, although the protein mass for LPL and HTGL were maintained. In addition, bezafibrate treatment effectively ameliorated hypertriglyceridemia in this case. This is the first case of hyperchylomicronemia with decreased activities and unaffected protein masses for both LPL and HTGL, without overt immuno-dysfunction.
authors.affiliation: Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Fujita
authors.forename: Norikazu
authors.initials: N
authors.lastname: Maeda
authors.forename: Junji
authors.initials: J
authors.lastname: Kozawa
authors.forename: Kakeyoshi
authors.initials: K
authors.lastname: Murano
authors.forename: Kohei
authors.initials: K
authors.lastname: Okita
authors.forename: Hiromi
authors.initials: H
authors.lastname: Iwahashi
authors.forename: Shinji
authors.initials: S
authors.lastname: Kihara
authors.forename: Masato
authors.initials: M
authors.lastname: Ishigami
authors.forename: Motoko
authors.initials: M
authors.lastname: Omura
authors.forename: Tadashi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Kohji
authors.initials: K
authors.lastname: Shirai
authors.forename: Taku
authors.initials: T
authors.lastname: Yamamura
authors.forename: Tohru
authors.initials: T
authors.lastname: Funahashi
authors.forename: Iichiro
authors.initials: I
authors.lastname: Shimomura
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D006801:Humans; D006951:Hyperlipoproteinemias / Q000150:complications* / Q000201:enzymology*; D008049:Lipase / Q000378:metabolism*; D008071:Lipoprotein Lipase / Q000378:metabolism*; D008099:Liver / Q000201:enzymology*; D008297:Male; D010195:Pancreatitis / Q000150:complications* / Q000201:enzymology*; D014973:Xanthomatosis / Q000150:complications* / Q000201:enzymology*
chemical_list: D008049:Lipase; D008071:Lipoprotein Lipase