ABSTRACT
A previously unreported patient with partial (cephalothoracic) lipodystrophy is described. Glucose tolerance and plasma lipids were normal, but plasma insulin increased to 340 muU/ml during an oral glucose tolerance test. Plasma free fatty acids were appropriately suppressed by oral glucose, insulin, and nicotinic acid, and were increased by infusion of norepinephrine. The lipolytic responses was also normal in response to two stimuli for endogenous catecholamine release: upright posture and 2-deoxyglucose infusion. There was a gradual development of postural hypotension in response to upright posture despite appropriate reflex tachycardia. Anhidrosis was present over the lower half of the body during this test, in a distribution corresponding to the area of adipose tissue hypertrophy. Anhidrosis was also seen in this region in response to warm ambient temperature. Adipose cells from the atrophic area were smaller than those from the hypertropic area, but the atrophic cells were only 65% of the volume of the hypertrophic cells by two different methods. Thus, loss of cells occurred. Glucose-1(-14)C utilization and in vitro lipolysis were similar in the two cell preparations; the difference were explicable by cell size and did not suggest a metabolic abnormality. Counts of unmyelinated nerves were similar in the two areas. These findings indicate that in this patient the lipodystrophy was associated with normal fat cells and an autonomic dysfunction. However, the findings cannot completely explain the pathogenesis of her disorder. Loss of fat cells, rather than symmetrical shrinkage, occurred in the upper half of the body.
