Mishah Azhar, MD1, Muhammad B. Hammami, MD1, Ahmad Musmar, MD1, Matthew Bromer, DO2
1Florida Atlantic University, Boca Raton, FL; 2GastroHealth, Boynton Beach, FL
Introduction: Glycogen hepatopathy (GH), a rare glycogen storage disease caused by genetic or acquired overactivation of hepatic glycogen synthesis enzymes, can mimic non-alcoholic fatty liver disease (NAFLD). We describe a case of biopsy proven GH in an adult with Type 1 DM (T1DM). Similar to cases described in the current literature, our case not only portrays the challenges faced by physicians when diagnosing this condition, but also the importance of distinguishing this from NAFLD
Case Description/Methods: A 33-year-old Honduran woman with a 25-year history of T1DM complicated by gastroparesis, multiple episodes of DKA and hypoglycemia, and recurrent pancreatitis was referred for abnormal liver enzymes. Family history was negative for liver disease. There was no history of alcohol or recreational drug use. Patients medications included insulin and thyroxine. Physical exam showed hepatomegaly but no stigmata of chronic liver disease. AST and ALT had ranged from 100’s to over 7000 while ALP was elevated to over 400. Albumin, Total bilirubin, platelets, INR, eosinophils, viral hepatitis panel, ANA, smooth muscle AB, LKM Ab, celiac serologies, ceruloplasmin, alpha 1 antitrypsin, iron studies, and acetaminophen levels were all normal. An abdominal ultrasound showed “fatty liver” and an atrophic pancreas. CT abdomen showed hepatomegaly. CBD was found to be normal on EUS and MRCP. A liver biopsy demonstrated glycogenotic hepatocytes.
Discussion: GH is frequently misdiagnosed as NAFLD, a more common liver disease that is also associated with diabetes. While GH is known to be reversible with otherwise no known long-term complications, NAFLD has been shown to progress to cirrhosis and cause hepatocellular carcinoma. Definite diagnosis often requires liver biopsy because of overlapping clinical and radiographical pictures. Elevation of both glucose and insulin levels in the setting of fragile DM control is thought to play a role via overstimulation of glycogen synthesis. Recommended treatment is stable “tight” glycemic control; pancreatic transplantation has resulted in sustained GH remission in two case reports. The required degree of stability and tightness of glucose control is not yet known. An increased awareness of GH is needed in an attempt to prevent delay in diagnosis, in a condition with an otherwise unknown incidence.
Citation: Mishah Azhar, MD; Muhammad B. Hammami, MD; Ahmad Musmar, MD; Matthew Bromer, DO. P0750 - A CASE REPORT OF GLYCOGEN HEPATOPATHY: A REVERSIBLE, YET RELAPSING CAUSE OF HEPATITIS IN TYPE 1 DIABETICS. Program No. P0750. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.