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Lipodystrophic syndromes

3 February 2015, by VIGOUROUX C. & CAPEAU J.


Lipodystrophic syndromes are characterized by a lack of development or loss of body fat occurring in the absence of nutritional deficiency and combined with often severe metabolic disorders, especially insulin resistance, diabetes and type IV dyslipidemia. Lipodystrophic syndromes are rare diseases (in France, about 1 case in 1 million for the congenital generalized forms, 1 case in 100 000 for the partial forms). They are characterised by etiologic heterogeneity: some forms are genetic and are either congenital or develop gradually during childhood, adolescence or early adulthood, while other forms appear to be acquired, and most often associated with immune system disorders. Some lipodystrophic syndromes are associated with complex systemic diseases, particularly inflammatory diseases and/or accelerated aging (progeroid) syndromes.

The evolution of the disease depends partially on the cause but, generally, progression is very similar for all forms, marked by the gradual onset of metabolic complications with impaired glucose tolerance progressing to diabetes that is difficult to manage with a risk microangiopathic complications, hepatic steatosis that may give rise to cirrhosis, a risk of acute pancreatitis during major outbreaks of hypertriglyceridemia and cardiovascular complications.

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