Fleeting Hepatomegaly Due to Glycogenic Hepatopathy in Uncontrolled Type I Diabetes Mellitus

Abstract

Purpose: Glycogenic Hepatopathy (GH) is an under-recognized pathologic overloading of hepatocytes with glycogen in patients with poorly controlled type I diabetes mellitus. We present a case of GH and discuss its clinical presentation, diagnosis, and management. Case presentation: An 18-year-old woman with Type I diabetes mellitus since age 5 was admitted via the emergency department for worsening nausea, vomiting, right upper quadrant pain, and increased abdominal girth. Physical examination revealed tender hepatomegaly 8 cm below the right costal margin. Laboratory data revealed an AST of 170 U/L, ALT 120 U/L, alkaline phosphatase 181 U/L, total bilirubin 0.8 mg/dl, HbA1C 12.5%. Subsequent laboratory screening for viral hepatitis and autoimmune hepatitis were negative. The patient denied alcohol use. A computed tomography scan of the abdomen revealed significant hepatomegaly without other abnormalities. An abdominal ultrasound revealed a liver measuring 17.5 cm in length with increased echogenic parenchyma suggestive of fatty infiltration. The hepatic vascular indices were normal. A trans-jugular liver biopsy revealed swollen hepatocytes, pale cytoplasm, and numerous glycogenated nuclei. A periodic acid-Schiff stain with and without diastase digestion demonstrated extensive glycogen deposition confirming the diagnosis of GH. Fibrosis, steatosis, and inflammation were absent. With aggressive glycemic control, the patient's abdominal pain, girth, and liver function abnormalities improved and the patient was discharged. Subsequent follow-up laboratory data revealed improved HbA1C and normal liver function tests. Discussion: GH is a complication of uncontrolled type I diabetes mellitus. Patients often present with liver function test abnormalities and abdominal pain, hepatomegaly, nausea, or vomiting. Glycogen is not toxic to hepatocytes and the elevation in liver enzymes is likely secondary to leakage from hepatocyte injury rather that cell death. Many physicans often mistake GH for fatty liver disease. Imaging and laboratory testing cannot effectively distinguish between these two entities. The diagnosis is made by liver biopsy which reveals marked glycogen accumulation in hepatocytes. Unlike steatosis, GH is not known to progress to cirrhosis. Management strategies for GH focus primarily on achieving strict glycemic control.