Human lipodystrophies: genetic and acquired diseases of adipose tissue. - Archive ouverte HAL Access content directly
Journal Articles Endocrine Development Year : 2010

Human lipodystrophies: genetic and acquired diseases of adipose tissue.

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Abstract

Human lipodystrophies represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial. Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2(AGPAT2). Dominant partial familial lipodystrophies result from mutations in genes encoding the nuclear protein lamin A/C or the adipose transcription factor PPARgamma. Importantly, lamin A/Cmutations are also responsible for metabolic laminopathies, resembling the metabolic syndrome and progeria, a syndrome of premature aging. A number of lipodystrophic patients remain undiagnosed at the genetic level. Acquired lipodystrophy can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of fat in the upper part of the body contrasting with accumulation in the lower part. Although their etiology is generally unknown, they could be associated with signs of autoimmunity. The most common forms of lipodystrophies are iatrogenic. In human immunodeficiency virus-infected patients, some first-generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations. Partial lipodystrophy also characterize patients with endogenous or exogenous long-term corticoid excess. Treatment of fat redistribution can sometimes benefit from plastic surgery. Lipid and glucose alterations are difficult to control leading to early occurrence of diabetic, cardiovascular and hepatic complications.
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inserm-00848148 , version 1 (25-07-2013)

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Jacqueline Capeau, Jocelyne Magré, Martine Caron-Debarle, Claire Lagathu, Bénédicte Antoine, et al.. Human lipodystrophies: genetic and acquired diseases of adipose tissue.. Endocrine Development, 2010, 19, pp.1-20. ⟨10.1159/000316893⟩. ⟨inserm-00848148⟩
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