Glycogenic Hepatopathy in Type I Diabetic Patient

Abstract

Glycogenic Hepatopathy (GH) is a rare complication of long-standing uncontrolled type I diabetes mellitus (T1DM). It is characterized by significant hepatomegaly and elevated transaminases that develop due to a reversible and excessive accumulation of glycogen in the hepatocytes. The true incidence of GH is unknown, as there are only a handful case reports and case series on it. In the limited literature, authors noticed that up to 95% of the patients with GH have T1DM. A 19-year-old male with uncontrolled T1DM presented to the emergency room with nausea, vomiting, epigastric and substernal chest pain. He was found to have diabetic ketoacidosis in the setting of medication non-compliance. Pertinent serology upon admission revealed a hepatocellular injury pattern with AST 247 units/L (normal range 3-34 units/L ), ALT 264 units/L (normal range 15 - 41 units/L), and alkaline phosphatase 212 units/L (normal range 45-117 units/L). His transaminases peaked at 698 units/L (AST) and 274 units/L (ALT). After an extensive work up during his hospital course, we ruled out drug induced liver injury (DILI), viral hepatitis, wilsons disease, autoimmune hepatitis, and hemochromatosis. Computed Tomography (CT) of the abdomen depicted hepatomegaly up to 25 cm in size (normal is 10-12 cm) with diffuse nonspecific hepatic steatosis (Figure 1). On liver biopsy, periodic acid-Schiff (PAS) stain (Figure 2) and periodic acid Schiff stain with diastase (PAS-D) (Figure 3) confirmed the presence of abundant glycogen within the hepatocytes, consistent with GH.2404_A Figure 1. Computed Tomography of the abdomen showing hepatomegaly with mild diffuse nonspecific hepatic steatosis2404_B Figure 2. Strong cytoplasm positivity with Periodic Acid-Schiff stain2404_C Figure 3. Cytoplasm positivity disappeared upon pre-treatment with diastase, consistent with glycogen accumulationEven though glycogen overloading of the liver was first described as a component of Mauriac syndrome in 1930, GH is still an under-diagnosed complication of type 1 diabetes mellitus. GH diagnosis is challenging as it is radiographically indistinguishable from non-alcoholic fatty liver disease. Liver biopsy is essential for confirmation of the diagnosis; therefore, without proper recognition of GH, this may not be done. The pathogenesis of GH is incompletely understood but the clinical presentation is fairly well defined. GH is a benign reversible condition with no known long-term complications and has the potential for resolution with optimal glycemic control. GH should be considered as a differential diagnosis in patients with underlying T1DM who present with abnormal liver enzymes and hepatomegaly. With more such cases being reported in the literature, we can better understand the natural course of the disease.