Lipodystrophies-Disorders of the Fatty Tissue.
Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. This is a crucial difference to being slim where the fat cells are present and store lipids if needed. A simple clinical classification of lipodystrophies is based on congenital vs. acquired and generalized vs. partial disturbance of fat distribution. Complications in patients with lipodystrophy depend on the clinical manifestations. For example, in diabetes mellitus microangiopathic complications such as nephropathy, retinopathy and neuropathy may develop. In addition, due to ectopic lipid accumulation in the liver, fatty liver hepatitis may also develop, possibly with cirrhosis. The consequences of extreme hypertriglyceridemia are typically acute pancreatitis or eruptive xanthomas. The combination of severe hyperglycemia with dyslipidemia and signs of insulin resistance can lead to premature atherosclerosis with its associated complications of coronary heart disease, peripheral vascular disease and cerebrovascular changes. Overall, lipodystrophy is rare with an estimated incidence for congenital (<1/1.000.000) and acquired (1-9/100.000) forms. Due to the rarity of the syndrome and the phenotypic range of metabolic complications, only studies with limited patient numbers can be considered. Experimental animal models are therefore useful to understand the molecular mechanisms in lipodystrophy and to identify possible therapeutic approaches.
['Knebel|Birgit|B|0000-0002-5575-4315', 'Müller-Wieland|Dirk|D|', 'Kotzka|Jorg|J|0000-0003-1173-9372']
D000217:Acyltransferases D000273:Adipose Tissue D000818:Animals D050197:Atherosclerosis D050218:Body Fat Distribution D003327:Coronary Disease D003920:Diabetes Mellitus D004195:Disease Models, Animal D005234:Fatty Liver D006801:Humans D015228:Hypertriglyceridemia D007333:Insulin Resistance D034904:Lamin Type A D050356:Lipid Metabolism D008060:Lipodystrophy D010195:Pancreatitis D014973:Xanthomatosis
lipodystrophy acquired generalized genetics