2.1
Lipodystrophy is a rare, heterogeneous group of syndromes characterised by complete or partial loss, or absence of, subcutaneous adipose tissue. Without sufficient adipose tissue there is disruption of the body's system for regulating energy use and storage. This results in lipid accumulation in abnormal sites such as the liver and muscle. Metabolic abnormalities often occur with lipodystrophy, including: insulin resistance with resultant hyperinsulinemia and diabetes; hepatic steatosis or steatohepatitis; and dyslipidaemia with severe hypertriglyceridaemia. The associated lack of leptin, particularly in people with generalised lipodystrophy, leads to symptoms such as hyperphagia. It may also contribute to the metabolic abnormalities. Hyperphagia, muscle pain and female reproductive dysfunction also have a significant effect on quality of life. Lipodystrophy is often diagnosed late in the disease course or remains undiagnosed.