title: Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.
abstract: Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.
authors.affiliation: Charité Campus Mitte, Medizinische Klinik Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany. hartmut.schmidt@charite.de
authors.forename: H H
authors.initials: HH
authors.lastname: Schmidt
authors.forename: J
authors.initials: J
authors.lastname: Genschel
authors.forename: P
authors.initials: P
authors.lastname: Baier
authors.forename: M
authors.initials: M
authors.lastname: Schmidt
authors.forename: J
authors.initials: J
authors.lastname: Ockenga
authors.forename: U J
authors.initials: UJ
authors.lastname: Tietge
authors.forename: M
authors.initials: M
authors.lastname: Pröpsting
authors.forename: C
authors.initials: C
authors.lastname: Büttner
authors.forename: M P
authors.initials: MP
authors.lastname: Manns
authors.forename: H
authors.initials: H
authors.lastname: Lochs
authors.forename: G
authors.initials: G
authors.lastname: Brabant
mesh_terms: D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D007797:Laminin / Q000235:genetics*; D008060:Lipodystrophy / Q000235:genetics*; D009154:Mutation
chemical_list: D001057:Apolipoproteins E; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D007797:Laminin; C084098:laminin A