title: Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4.
abstract: Eruptive xanthomas in adults are usually indicative of chylomicronemia. Although diabetes mellitus is the most common secondary cause of chylomicronemia, which is designated as diabetic lipemia, the clinical characteristics of diabetes with regard to development of xanthomas are not well defined. In this paper, we describe a young female who displayed eruptive xanthomas as an initial manifestation of diabetic lipemia. The patient was a 20-year-old female with a body mass index of 18.9 kg/m2 and Marfanoid appearance. Her past history was unremarkable, except for patent ductus arteriosus and mild mental retardation. She was admitted to our division for eruptive xanthomas on the extremities and marked hyperglycemia (random glucose, 520 mg/dl) and hypertriglyceridemia (6880 mg/dl). She was diagnosed with Type 2 diabetes based on the positive family history of diabetes, residual secretory capacity of insulin, and absence of autoantibodies related to Type 1 diabetes. Based on the increase in the concentrations of both chylomicrons and very low density lipoproteins, type V hyperlipoproteinemia was diagnosed. After the initiation of insulin therapy, both hypertriglyceridemia and eruptive xanthomas subsided, without administering any hypolipidemic agents. Minimal model analysis of a frequently sampled intravenous glucose tolerance test revealed severe insulin resistance, despite the absence of obesity. Post-heparin lipoprotein lipase (LPL) activity was moderately decreased, and common mutations in the LPL gene were not demonstrated by genetic screening. The apolipoprotein E phenotype was E4/4, which is known to be associated with type V hyperlipoproteinemia. Hypoadiponectinemia of 1.7 microg/ml was also revealed, which may, in part, account for the insulin resistance and decreased LPL activity. In conclusion, the clustering of apolipoprotein E4/4 and hypoadiponectinemia, in addition to insulin resistance and poor glycemic control, might have resulted in hypertriglyceridemia with eruptive xanthomatosis in this subject.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Jichi Medical School, Yakushiji 3311-1, Minamikawachi, Tochigi 329-0498, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Shinozaki
authors.forename: Naoki
authors.initials: N
authors.lastname: Itabashi
authors.forename: Kumiko
authors.initials: K
authors.lastname: Rokkaku
authors.forename: Kenji
authors.initials: K
authors.lastname: Ichiki
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Nagasaka
authors.forename: Koji
authors.initials: K
authors.lastname: Okada
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Fujimoto
authors.forename: Mamitaro
authors.initials: M
authors.lastname: Ohtsuki
authors.forename: Shun
authors.initials: S
authors.lastname: Ishibashi
mesh_terms: D000328:Adult; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001786:Blood Glucose; D001835:Body Weight; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D007328:Insulin / Q000627:therapeutic use; D013851:Thinness; D014973:Xanthomatosis / Q000150:complications* / Q000473:pathology
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D001786:Blood Glucose; D007328:Insulin