Endocrine Abstracts

The combination of acute pancreatitis (AP), severe hypertriglyceridemia (HTG), and diabetic ketoacidosis (DKA) possess a life-threatening triad. The pathogenesis of HTG is explained by insulin deficiency, but although DKA is a frequent complication in children and adolescents, this triad is rare. We report a 10-year-old girl with Type 1 Diabetes Mellitus (DM) for 10 months, who presented with DKA, severe HTG and AP. Her serum was lipemic. She had HTG (1733 mg/dL) and severe abdominal pain that did not improve despite treatment for ketoacidosis. She had high serum lipase concentration (1581 U/L) and serum amylase concentration 1581 U/L, and stage E pancreatitis were detected on abdominal tomography. The patient, whose very low-density lipoprotein (VLDL) level was high during the attack, did not have dyslipidemia either before or after the attack. She recovered with a combination of hydration and insulin therapy. A heterozygous p.N318S (c.953A>G) variant was detected in her lipoprotein lipase (LPL) gene. Additionally, her apolipoprotein B (ApoB) was elevated at 1.44 g/L. It is well established that both the likely pathogenic LPL variants and high ApoB concentrations contribute to increased risk of cardiovascular complications. LPL gene mutation should be considered in severe HTG and/or AP detected during DKA in children and adolescents with T1DM even if they have no history of dyslipidemia. Detection of these mutations may also be important in predicting long-term cardiovascular risks.