[Leptin treatment of multiple symmetric lipomatosis due to a mitochondrial defect]

Multiple symmetric lipomatosis, or Madelung's disease, is a rare condition with symmetrical fat deposits on the upper body, increasingly associated with genetic mutations. In this case report, we present a patient with an mitofusin 2 mutation causing mitochondrial dysfunction and extremely low leptin. Treatment with metreleptin led to reduced appetite, 17% weight loss, improved triglyceride levels, insulin sensitivity, and reduced liver fat. This is the first published Danish case; metreleptin shows promising results in the treatment of rare leptin-deficient lipodystrophic disorders.