Alarcan, Hugo
The triad of diabetic ketoacidosis–acute pancreatitis–hypertriglyceridaemia: The value of genetic exploration
- 2022.
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A 16-year-old child with no medical history was admitted to the hospital emergency room for abdominal pain associated with polyuria-polydipsia and weight loss (baseline BMI: 25.4 kg/m2). A diagnosis of severe ketoacidosis was quickly suggested due to major metabolic acidosis, high ketonemia, and glycemia. Acute pancreatitis was then diagnosed due to a plasmatic lipase at more than ten times normal values, combined with severe hypertriglyceridemia above 100 mmol/L. The triad of diabetic ketoacidosis–acute pancreatitis–hypertriglyceridemia is rarely found in childhood and can have harmful consequences. The etiology of this disease is still not fully understood, as one can be both cause and consequence of the other. Genetic investigation of familial chylomicronemia served to invalidate the dyslipidemia etiology of this event. On the other hand, the association of a genetic variant of lipoprotein lipase leading to a decrease in its activity, with the insulinopenia of type 1 diabetes, most certainly triggered this episode of hypertriglyceridemia.