Yezan Abderrahman, MD
Pediatric Critical Care Fellow
University of Iowa Hospital and Clinics
Iowa City, IA, United States
Disclosure information not submitted.
Vanessa Curtis, MD
Clinical Associate Professor, Pediatric Endocrinology
University of Iowa Hospitals and Clinics
Iowa City, Iowa, United States
Disclosure information not submitted.
Kari Wellnitz, MD
Clinical Assistant Professor, Pediatric Critical Care
University of Iowa Hospitals and Clinics
Iowa City, Iowa, United States
Disclosure information not submitted.
Title: A Case of DKA and Acute Pancreatitis in an Adolescent Female With Severe Hypertriglyceridemia
Case Report Body:
Introduction: Hypertriglyceridemia is a well-recognized etiology for pancreatitis with subsequent endocrine insufficiencies. Several gene mutations have been linked to increased risk of elevated serum triglycerides level. Mortality and morbidity can be significant. Early diagnosis and intervention are key factors to improving clinical outcomes.
Description: A 14-year-old previously healthy, lean female (BMI 18.5 kg/m2, 34.5th percentile for age and gender, z score -0.4) presented to a local Emergency Department with one day of worsening epigastric abdominal pain, headaches, polyurea and polydipsia. She was afebrile, normotensive, alert and oriented. Initial laboratory studies revealed hyperglycemia with initial blood glucose 425mg/dl; Bicarbonate 8 mEq/L; anion gap 18 mEq/L, arterial blood gas (ABG) PH 7.14. Urine analysis revealed glucosuria (+3) and ketonuria (+2) prompting diagnosis of diabetic ketoacidosis (DKA). She was found to have pancreatitis with serum amylase 691 U/L and Lipase 2000 U/L. She denied alcohol consumption. Her blood samples were noted to be extremely lipemic. Serum triglycerides were found to be elevated at >9,735 mg/dl. Blood samples required dilution for accurate analysis. Ultrasound abdomen showed no evidence of gallstones. Hyperglycemia, acidosis, and hypertriglyceridemia responded to starting insulin drip, and her pancreatic enzymes normalized. Patient’s triglycerides remained elevated at 685 mg/dL. She was transitioned to subcutaneous insulin on basal-bolus regimen. Genetic testing was performed and revealed predisposition to both hypercholesterolemia (heterozygous for pathogenic variant in the Lipoprotein Lipase (LPL) gene and homozygous for risk variant in APOB gene) and pancreatitis (homozygous for risk variant in CFTR and heterozygous for risk variant in CTRC). Family history wasn’t suggestive of pancreatitis, diabetes mellitus, hyperlipidemias, or any autoimmune process. Patient was discharged on subcutaneous insulin and omega-3 fatty acids.
Discussion: Our case highlights a previously undiagnosed patient with genetic predisposition for hypertriglyceridemia and pancreatitis who presented dramatically in DKA and acute pancreatitis in the setting of severe hypertriglyceridemia. Clinicians may consider evaluating for pancreatitis and hyperlipidemia in patients presenting with DKA.