Catalog

Familial partial lipodystrophy due to AKT2 mutations

No MMS code

Link to WHO Definition

Familial partial lipodystrophy due to AKT2 mutations – http://id.who.int/icd/entity/1401460355

Familial partial lipodystrophy associated with AKT2 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.