A Lean Metabolic Catastrophe - A Case Report on Congenital Generalized Lipodystrophy Presenting as Severe Insulin...

We report a 20-year-old female who presented with acute abdominal pain and vomiting, with a background of diabetes mellitus and severe hypertriglyceridemia since the age of 16 years. Clinical examination revealed a marked paucity of subcutaneous adipose tissue throughout the body. Laboratory investigations confirmed severe insulin resistance with HbA1c (glycated hemoglobin) of 8.5%, massive hypertriglyceridemia (1257 mg/dL), and preserved C-peptide levels (3.75 ng/mL). The clinical phenotype and biochemical profile suggested a diagnosis of congenital lipodystrophy, though genetic confirmation was not feasible due to financial constraints. Congenital lipodystrophy is characterized by ectopic fat accumulation in the liver, muscles, and pancreas, with resultant severe insulin resistance and metabolic complications. Management with dual PPAR agonist therapy (saroglitazar), omega-3 fatty acids (icosapent ethyl), thiazolidinediones (pioglitazone-metformin combination), and basal insulin resulted in significant improvement in lipid and glycemic parameters on subsequent follow-ups.