Primary lipodystrophy

Definition

A heterogenous group of rare endocrine diseases characterized by a generalized or localized loss of adipose tissue (lipoatropy) associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis. In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance (acanthosis nigricans and signs of hyperandrogenism) are often present. It has both genetic and acquired forms.