title: Congenital lipodystrophies and dyslipidemias.
abstract: Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.
authors.affiliation: INSERM U1087-CNRS UMR 6291, L'institut du Thorax, 8 quai Moncousu, 44007, Nantes Cedex 1, France, xavier.prieur@univ-nantes.fr.
authors.forename: Xavier
authors.initials: X
authors.lastname: Prieur
authors.forename: Cedric
authors.initials: C
authors.lastname: Le May
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Magré
authors.forename: Bertrand
authors.initials: B
authors.lastname: Cariou
mesh_terms: D000273:Adipose Tissue / Q000378:metabolism; D000818:Animals; D050171:Dyslipidemias / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D020022:Genetic Predisposition to Disease; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications / Q000151:congenital*; D008060:Lipodystrophy / Q000151:congenital* / Q000175:diagnosis* / Q000378:metabolism; D009154:Mutation / Q000235:genetics