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.