Introduction: Acquired generalized lipodystrophies (AGL) are rare syndromes characterized by complete loss of subcutaneous adipose tissue and very low serum leptin levels. AGL are complicated by severe insulin resistance, diabetes mellitus, dyslipidemia and fatty liver. In most patients evidence exists of an autoimmune etiology.
Case report: We herein describe the case of a Caucasian woman who was diagnosed with lipodistrophy at 5 years of age, when she began to develop a gradual loss of subcutaneous adipose tissue. At the age of 20 years insulin-resistance, hypertriglyceridemia and fatty liver were evident; diabetes mellitus was diagnosed when she was 28-years old, and 3 years after insulin therapy became necessary in order to improve metabolic control of the disease. Genetic testing were negative for PPARG and LMNA/C mutations, ruling out the principal forms of congenital lipodystrophies. She came to our attention at the age of 35 years. At clinical examination a generalized loss of subcutaneous fat that included the face and the extremities was observed. Laboratory tests showed a poor glicemic control. HbA1c was 85 mmol/mol on high doses of insulin (150UI/die). Nuclear, PMScl, Gastric Parietal Cell, and high titer Glutamic Acid Decarboxylase autoantibodies were detected.
Discussion: AGL are frequently associated with other autoimmune disorders. The coexistance with type 1 diabetes is very rare, but the association with a latent autoimmune diabetes mellitus in adults (LADA) has never been reported before. This association generates an unusual metabolic pattern characterized by severe insulin-resistance due to ectopic-lipid accumulation and severe diabetes due to an absolute insulinopenia. For these reasons the management of the metabolic syndrome in this case is extremely difficult and the association of insulin with human recombinant leptin therapy seems to be more efficient than conventional drugs. This case shows the need to screen all patients presenting with an AGL for associated autoimmune disorders including type 1/LADA diabetes.
20 May 2017 - 23 May 2017