A Case Report About Glycogenic Hepatopathy

Introduction : Glycogenic hepatopathy (GH) is a rare complication of uncontrolled diabetes mellitus that presents with hepatomegaly with transient elevation in serum aminotransferase enzymes. The pathophysiology of this condition presents with excessive accumulation of intrahepatic glycogen. GH is usually underdiagnosed because it is difficult to differentiate from other entities, such as nonalcoholic fatty liver (NAFLD). The gold standard to make the diagnosis is to perform a liver biopsy.  GH can be reversed by the achievement of adequate glycemic control. 

Case Description : A 19-year-old with history of poorly controlled type 1 diabetes mellitus that resulted in multiple prior admissions due to diabetic ketoacidosis. The patient presented to the emergency room with generalized weakness and fatigue found to have diabetic ketoacidosis. Blood tests revealed abnormal liver function with AST of 1129 U/L (13-37 U/L), ALT 766 U/L (13-56 U/L), Alkaline Phosphatase 216 (45-117), Total Bilirubin 1.0 (0.2-1.3 mg/dL), Albumin 3.8 (3.4-5.0 g/dl), PTT < 20s (23-31s), PT 11.8 (9.5-11.5s) and INR 1.1.  Acute hepatitis serologies were negative. EBV and CMV were ruled out. Extensive autoimmune hepatitis tests were negative. Primary biliary cirrhosis was also ruled out. Then a liver biopsy was obtained; which provided a positive diagnosis for glycogenic hepatopathy. 

Discussion : GH is a disorder associated with uncontrolled diabetes mellitus. It is characterized by a pathologic accumulation of glycogen in the hepatocytes. It is predominantly seen in patients with type 1 diabetes mellitus and is associated with recurrent episodes of DKA and higher HbA1C levels.
Clinical symptoms vary from asymptomatic to abdominal pain, nausea or vomiting, or can present with signs of acute hepatitis. Most patients present with a higher AST to ALT levels.  Diagnosis can be confirmed by performing a liver biopsy, which is characterized by the accumulation of glycogen in the cytoplasm and the nuclei of the hepatocytes. This is demonstrated by periodic acid-Schiff staining. There is no role for noninvasive tests like fibroscan or fibrotest for the diagnosis of GH or for differentiation of this situation from nonalcoholic fatty liver disease. Strict glycemic control results in improvement of liver function in patients with GH.   
GH must be suspected in patients, with type 1 diabetes mellitus, which present with elevated liver enzymes and abdominal pain. Treating this rare condition requires a timely diagnosis that include the following criteria: 1) perform a liver biopsy and 2) ensure strict glycemic control.