Familial partial lipodystrophy associated with PPARG mutations (Q97029): Difference between revisions

Familial partial lipodystrophy associated with PPARG (peroxisome proliferative activated receptor gamma) mutations belongs to the group of lipodystrophy syndromes characterised by anomalies of adipose tissue distribution and often associated with severe insulin resistance manifested by hyperinsulinaemia (insulin levels above 20mUI/l), carbohydrate intolerance or diabetes, hypertriglyceridaemia with low levels of high-density lipoproteins (HDL) and arterial hypertension. Acanthosis nigricans, hepatic steatosis and polycystic ovary syndrome are also frequent.