title: Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms.
abstract: Lipoprotein lipase (LPL) deficiency is a rare monogenic disorder that manifests as severe hypertriglyceridemia. Whether or not LPL deficiency accelerates the development of atherosclerosis remains controversial. We herein report a 66-year-old woman who was homozygous for the R243H LPL mutation. She had developed multiple arterial aneurysms and systemic atherosclerosis despite good control of other atherogenic risk factors, including diabetes. Furthermore, although intensive pharmaceutical therapies had been minimally effective, medium chain triglyceride (MCT) therapy reduced the serum triglyceride levels. Thus, this case suggests important role that mutated LPL protein plays in the progression of atherosclerosis and that MCT therapy is potentially effective, even for severe hypertriglyceridemia due to LPL deficiency.
authors.affiliation: Department of Diabetes and Metabolism, Tohoku University Hospital, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shojiro
authors.initials: S
authors.lastname: Sawada
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ishigaki
authors.forename: Sohei
authors.initials: S
authors.lastname: Tsukita
authors.forename: Shinjiro
authors.initials: S
authors.lastname: Kodama
authors.forename: Takashi
authors.initials: T
authors.lastname: Sugisawa
authors.forename: Junta
authors.initials: J
authors.lastname: Imai
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Yamada
authors.forename: Takashi
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Takeyoshi
authors.initials: T
authors.lastname: Murano
authors.forename: Hideki
authors.initials: H
authors.lastname: Katagiri
mesh_terms: D000368:Aged; D000783:Aneurysm / Q000000981:diagnostic imaging / Q000209:etiology*; D050197:Atherosclerosis / Q000209:etiology; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D005260:Female; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications* / Q000235:genetics; D015228:Hypertriglyceridemia / Q000209:etiology; D008071:Lipoprotein Lipase / Q000235:genetics; D020125:Mutation, Missense; D014057:Tomography, X-Ray Computed; D014280:Triglycerides / Q000097:blood
chemical_list: D014280:Triglycerides; D008071:Lipoprotein Lipase