Lipodystrophies are characterized by generalized or partial absence of adipose tissue and are typically considered in individuals with insulin resistance, significant dyslipidaemia and fatty liver. Lipodystrophies are typically classified according to the anatomical distribution of fat tissue:
Congenital generalized lipodystrophy, which is typically apparent from birth, is characterized by generalized loss of adipose tissue affecting the limbs, trunk, face and neck. Advanced bone age and linear growth and skeletal muscle prominence can be seen during childhood. Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.
Partial lipodystrophy, which may not be prominent until puberty and is typically milder, is characterized by abnormal fat topography along with an overall reduction in fat mass affecting the limb with variable truncal involvement and normal or excess fat on the face and neck. Women are typically more severely affected than men. Asymptomatic impaired glucose tolerance to severe insulin resistance can be noted, and non-alcoholic steatohepatitis and cardiovascular disease are common complications.
Any gene in the Comprehensive Lipodystrophy panel can be ordered individually. Please contact us directly for cost and CPT code information.