Glycogenic Hepatopathy: A Rare Hepatic Complication of Poorly Controlled Type 1 DM

Abstract

Glycogen hepatopathy (GH) is a rare complication of type 1 diabetes mellitus that leads to an abnormal accumulation of glycogen in the hepatocytes. The exact mechanism of GH remains unknown, but fluctuations in blood glucose and insulin levels play important roles in promoting glycogen accumulation. We report a case of a 16-year-old female diagnosed with poorly controlled type 1 diabetes mellitus with hepatomegaly and elevated liver enzymes. The patient experienced multiple admissions for diabetic ketoacidosis, and she also had celiac disease diagnosed 2 years previously based on serology and a duodenal biopsy. The laboratory analyses results were compatible with acute hepatitis, and the celiac serology was positive. Other investigations ruled out viral hepatitis and autoimmune and metabolic liver diseases. Ultrasound and computerized tomography (CT) scans of the abdomen revealed liver enlargement with diffuse fatty infiltration. A liver biopsy revealed the presence of abundant glycogen in the cytoplasm of the hepatocytes. PAS staining was strongly positive, which confirmed the diagnosis of GH. There were no features of autoimmune hepatitis or significant fibrosis. Duodenal biopsy results were consistent with celiac disease. Despite our efforts, which are supported by a multidisciplinary team approach that included a hepatologist, a diabetic educator, a dietitian, and an endocrinologist, we have encountered difficulties in controlling the patient’s diabetes, and she persistently maintains symptomatic hepatomegaly and abnormal liver biochemistry. Given the patient’s age, we assumed that these abnormalities were related to patient noncompliance. In conclusion, GH remains an under-recognized complication of type 1 DM that is potentially reversible with adequate glycemic control. The awareness of GH should prevent diagnostic delay and its implications for management and the outcome.

A Case Report about Glycogenic Hepatopathy

“…CT scans of patients with GH will show increased hepatic attenuation due to increased glycogen deposition, but in patients with NAFLD, the CT will show low attenuation due to increased fat deposition in the liver. MRI with gradient-dual-echo could further differentiate GH and NAFLD by showing low intensity on subtraction in GH and high intensity in NAFLD [ 6 ]. However, the definitive diagnosis of GH is made with a biopsy.…”

“…However, the definitive diagnosis of GH is made with a biopsy. The classic histologic features include swollen hepatocytes, abundant cytoplasmic glycogen deposits with PAS stain, and minimal portal inflammation, steatosis, or fibrosis [ 1 , 6 ]. It is imperative to exclude other causes of hepatomegaly and elevated transaminase levels, including autoimmune hepatitis, celiac disease, viral hepatitis, hemochromatosis, and Wilson disease [ 1 ].…”