International Journal For Multidisciplinary Research

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Extreme hypertriglyceridemia revealing clinically suspected congenital generalized lipodystrophy in adulthood a diagnosic challenge

Author(s) Dr. Sara HASSANE, Dr. Zineb SERHANE, Dr. Widad MOUSSAOUI, Prof. Dr. Mohammed Amine ESSAFI, Prof. Dr. Zineb EL AZIME, Prof. Dr. Hayat AYNAOU, Prof. Dr. Houda SALHI
Country Morocco
Abstract Lipodystrophy syndromes are rare disorders characterized by a deficiency of adipose tissue and associated severe metabolic complications. We report the case of a 41-year-old woman with long-standing diabetes diagnosed at the age of 16, following diabetic ketoacidosis and recurrent metabolic decompensations, and a prior episode of acute pancreatitis.
On physical examination, she exhibited marked generalized lipoatrophy with a body mass index of 13.4 kg/m². Laboratory investigations revealed extreme hypertriglyceridemia (150 g/L), predominantly composed of very-low-density lipoproteins, along with poor glycemic control (HbA1c 12%).
The association of early-onset diabetes, severe lipoatrophy, hepatic steatosis, and marked hypertriglyceridemia was strongly suggestive of congenital generalized lipodystrophy based on clinical and metabolic features, although genetic testing was unavailable due to financial constraints.
Management included strict lipid restriction, optimization of insulin therapy, fenofibrate, omega-3 supplementation, and a short period of fasting, resulting in a reduction of triglyceride levels from 150 g/L to 0.56 g/L.
Despite longstanding diabetes and a single episode of severe acute pancreatitis (Balthazar grade E) in 2015, the diagnosis was not made until adulthood. This case shows why lipodystrophy deserves consideration whenever hypertriglyceridemia reaches extreme levels, since earlier suspicion could help avoid pancreatitis and improve long-term metabolic outcomes.
Keywords Congenital generalized lipodystrophy; severe hypertriglyceridemia; acute pancreatitis
Field Medical / Pharmacy
Published In Volume 8, Issue 5, September-October 2026
Published On 2026-09-09
DOI https://doi.org/10.36948/ijfmr.2026.v08i05.87450
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