Acquired partial lipodystrophy is associated with increased risk for metabolic complications

Abstract

Acquired partial lipodystrophy (APL) is a rare disorder characterized by fat loss starting at childhood or early adulthood which first affects the face, and then progresses to the neck, upper extremities, and trunk, sparing some fat on the lower extremities. In previous case studies, metabolic complications were reported to be relatively rare in APL, while they were quite common in other types of lipodystrophy syndromes. However, so far, there has been no systematic study on metabolic complications in APL. In this work, we systematically evaluated APL patients in the Turkish Lipodystrophy Study Group (TuLip) registry who were enrolled in a prospective follow-up protocol for metabolic complications. Of 21 APL patients, 15 individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia (hyperTg), 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Two patients with severe hyperTg (9.5%) had recovered from several acute pancreatitis episodes. The median age at onset of diabetes was 21. Anti GAD was negative in all. Leptin levels were slightly decreased compared to patients with type 2 diabetes and healthy controls, however, consistently very low leptin as detected in patients with congenital generalized lipodystrophy (CGL), was not the case. Basal and mix meal stimulated insulin/C-peptide levels suggested that APL patients with diabetes had a significant amount of pancreatic beta cells functioning, and their diabetes was apparently associated with insulin resistance. Our results reveal that a significant number of patients with APL develop metabolic complications associated with insulin resistance. Therefore, we recommend clinicians to screen their patients with APL for diabetes and other metabolic parameters at a regular basis. Further research is needed to clarify if APL patients with metabolic complications would benefit from metreleptin treatment.