ESPE Abstracts (2015) 84 P-1-35

Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

Svetlana Tena, Amrit Bhangoob, Divya Khuranac, Mark Flyerd & Abhimanyu Garge


aPediatric Endocrinology PC, Brooklyn, NY, USA; bChildren Hospital of Orange County, Orange, California, USA; cMarshfield Clinic, Marshfield, WI, USA; dMaimonides Medical Center, Brooklyn, NY, USA; eUniversity of Texas Southwestern Medical Center, Dallas, TX, USA


Background: Congenital generalised lipodystrophy (CGL) is a rare autosomal recessive disorder which presents with near total lack of adipose tissue and extreme insulin resistant diabetes. Metreleptin, an analogue of leptin was made through recombinant DNA technology. It was approved to treat CGL from February 2014.Our case represent successful use of Metreleptin in a child with diabetes developed secondary to CGL.

Case presentation: A 14-years-old African-American boy was referred for evaluation of insulin dependent diabetes at 11 years of age. He was diagnosed with diabetes at 9 years of age. Clinically, he was noted to have significant acanthosis nigricans, muscular extremities, acromegaloid features of the face and normal intellectual development. His BMI 23.2 kg/m2 and blood pressure were normal. Leptin level was decreased 0.5 ng/ml (Nl. 1.4–16.5), Triglycerides (TG), ALT, AST were elevated and Hemoglobin A1c was 14.7%. Islet cell antibodies were negative. MRI revealed generalized muscle hypertrophy with markedly decreased subcutaneous and intra-abdominal fat, periarticular and intramedullary lytic bone lesions, and hepatomegaly. AGPAT2 gene analysis revealed homozygous c.IVS4-2A>G mutation. Treatment with high doses of insulin up to 3 u/kg/day with addition of metformin was unsuccessful. After starting Metreleptin treatment within 1 month we were able to stop insulin therapy. At first it was necessary to increase Metreleptin dose from 2.5 mg to 10 mg per day but within 2 months of therapy dose was decreased to 2.5 mg per day and without any other medications his glucose levels became normal. HbA1c improved from 14.7 to 6.3% after 6 months of therapy. His TG, ALT and AST became normal as well.

Conclusion: Diabetes secondary to CGL can be misdiagnosed in children as type 1 diabetes. Clinical keys were acanthosis nigricans and acromegalic facial features and muscular extremities. Metreleptin therapy may dramatically improve the metabolic complications in patients with CGL.

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