[Therapy resistant diabetes mellitus and lipodystrophy: leptin therapy leads to improvement]

Lipodystrophy is a congenital or acquired disorder characterized by complete or partial absence of subcutaneous fat tissue, often accompanied by insulin resistance, diabetes mellitus (DM), hypertriglyceridemia and hepatic steatosis. A decrease in both number and function of adipocytes leads to ectopic fat depositions and decreased production of adipokines such as leptin. We present 2 patients with inadequately regulated DM, hypertriglyceridemia and hepatic steatosis who were eventually diagnosed with lipodystrophy: 1 with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) and 1 with congenital partial lipodystrophy (Dunnigan syndrome). Both received recombinant human leptin therapy (methionylleptin, available on a compassionate-use basis). This resulted in improved plasma levels of triglyceride, glucose and HbA1c and a decrease in liver size. In addition, hepatic triglyceride content decreased from 19.3% to 1.3% in the first patient and from 20.6% to 12.4% in the second. Leptin therapy is an effective and safe treatment for therapy-resistant diabetes and hypertriglyceridemia in patients with congenital lipodystrophy.