title: Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia.
abstract: We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes LMNA, PPARG and CAV1 associated with FPL revealed no genetic abnormalities, which indicated the activity of a novel gene in this patient. The patient's son showed milder fat loss and similar fat distribution compared to the proband; however, the son showed no signs of any atherosclerotic disease. Although a cluster of atherogenic risk factors is likely to be the primary causes of atherosclerosis in our patient, other factors, including an unknown gene associated with FPL, the severity of fat loss and gender, might affect the development of atherosclerosis.
authors.affiliation: Diabetes and Endocrine Division, Kusatsu General Hospital, Japan. masa-iwani@solid.ocn.ne.jp
authors.forename: Masanori
authors.initials: M
authors.lastname: Iwanishi
authors.forename: Ken
authors.initials: K
authors.lastname: Ebihara
authors.forename: Toru
authors.initials: T
authors.lastname: Kusakabe
authors.forename: Shinji
authors.initials: S
authors.lastname: Harada
authors.forename: Jun
authors.initials: J
authors.lastname: Ito-Kobayashi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tsuji
authors.forename: Kiminori
authors.initials: K
authors.lastname: Hosoda
authors.forename: Kazuwa
authors.initials: K
authors.lastname: Nakao
mesh_terms: D000328:Adult; D051242:Caveolin 1 / Q000235:genetics; D003324:Coronary Artery Disease / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications; D015228:Hypertriglyceridemia / Q000150:complications*; D007564:Japan; D034904:Lamin Type A / Q000235:genetics; D052496:Lipodystrophy, Familial Partial / Q000150:complications*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009765:Obesity / Q000150:complications; D047495:PPAR gamma / Q000235:genetics; D010375:Pedigree
chemical_list: C495540:CAV1 protein, human; D051242:Caveolin 1; C494847:LMNA protein, human; D034904:Lamin Type A; D047495:PPAR gamma