# Lipoprotein Lipase (LPL) Gene Mutation in a Girl With Diabetic Ketoacidosis, Acute Pancreatitis, and Hypertriglyceridemia

## TL;DR

A 10-year-old girl with type 1 diabetes developed a rare combination of diabetic ketoacidosis, acute pancreatitis, and severe high triglycerides due to a mutation in the LPL gene.

## Contribution

This case highlights the importance of LPL gene testing in children with type 1 diabetes and the rare triad of AP, HTG, and DKA.

## Key findings

- The patient had a heterozygous p.N318S variant in the LPL gene.
- Her condition improved with hydration and insulin therapy.
- Elevated ApoB levels were also observed, indicating cardiovascular risk.

## Abstract

The combination of acute pancreatitis (AP), severe hypertriglyceridemia (HTG), and diabetic ketoacidosis (DKA) poses a life-threatening triad. Although DKA is a frequent complication in children, this triad is rare. We report a 10-year-old girl with type 1 diabetes mellitus (T1DM) for 10 months, who presented with DKA, severe HTG, and AP. Her serum was lipemic. She had HTG (1733 mg/dl, 19.5 mmol/L; reference range, 90-129 mg/dl, 1,016-1,456 mmol/L) and severe abdominal pain that did not improve despite treatment for ketoacidosis. She had high lipase levels (1581 U/L, reference range 28-100 U/L), and pancreatitis was detected on abdominal tomography. 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. Her apolipoprotein B (ApoB) was elevated at 1.44 g/L (reference range, 0.6-1.17 g/L, 60-117 mg/dl). It is well established that both the likely pathogenic LPL variants and high ApoB concentrations contribute to an increased risk of cardiovascular complications. Therefore, it is recommended to evaluate for a pathogenic variant in the LPL gene in children with T1DM who do not have dyslipidemia but exhibit the rare triad of AP, HTG, and DKA.