Genetic Disorders of Adipose Tissue

George W. M. Millington


Subcutaneous fat consists of two main groups of cells, white adipose tissue (WAT) and brown adipose tissue, as well as capillaries, which facilitate its metabolic functions. In adults, it comprises almost entirely WAT, where its functions include insulation, energy storage and a recently recognized complex endocrine role. Excess energy is stored in WAT, which leads to obesity. Brown fat is most detectable in the neonate and its function appears to be quite different from that of WAT, particularly being involved in thermogenesis. Its role in the older child and adult is less clear. Disorders of adipose tissue can be divided principally into: disorders of distribution of fat, the lipodystrophies, lipoedema and fibroadipose hyperplasia, disorders of excessive generalized accumulation of fat (in other words obesity), tumours and inflammation (such as panniculitis). There is increasing evidence of a hereditary component in the pathogenesis of all of these conditions.
Keywords adipose tissue, obesity, genes, genetics, pro‐opiomelanocortin, lipodystrophy, lipoma, CLOVES syndrome, congenital lipomatous overgrowth, vascular malformations and epidermal naevi syndrome, panniculitis, lipoedema


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