A Lean Metabolic Catastrophe - A Case Report on Congenital Generalized Lipodystrophy Presenting as Severe Insulin Resistance and Hypertriglyceridemia.
Satbir Kaur Malik, Divam Prakash Singh, Vijayashree Gokhale et al.
✦ AI-curated · Sources linked
Case in brief
A 20-year-old woman presented with acute abdominal pain and vomiting, with diabetes and severe hypertriglyceridemia dating from age 16. Examination showed markedly reduced subcutaneous fat throughout the body. HbA1c was 8.5%, triglycerides were 1257 mg/dL, and C-peptide was preserved at 3.75 ng/mL, supporting severe insulin resistance. The phenotype and biochemical findings suggested congenital generalized lipodystrophy, but genetic confirmation was not feasible because of financial constraints. Treatment with saroglitazar, icosapent ethyl, pioglitazone-metformin, and basal insulin was followed by significant improvement in lipid and glycemic parameters.
What made this case unusual
The combination of generalized paucity of subcutaneous fat, severe insulin resistance, and marked hypertriglyceridemia pointed to congenital lipodystrophy despite preserved C-peptide; the diagnosis remained clinically suspected because genetic testing was unaffordable.
Diagnostic / clinical pearl
Marked generalized loss of subcutaneous fat in a patient with severe insulin resistance and hypertriglyceridemia should prompt consideration of congenital lipodystrophy, even when genetic confirmation is unavailable.