You Are Never Too Old: A Case of Glycogen Storage Disease Type 1 in an Adult: 2017 Presidential Poster Award

Abstract

Glycogen storage disease (GSD) type 1a, also known as Von Gierke's disease, is caused by the absence of glucose-6-dephosphatase. This disease usually manifests in infancy with hypoglycemia, hepatomegaly, and poor growth. In rare cases, adults have been diagnosed with GSD type 1a usually by the presence of hepatocellular adenomas. A 40-year-old Hispanic man presented initially after motor vehicle accident due to a seizure. CT abdomen was performed with an incidental finding of a liver mass, which was biopsied multiple times and showed hepatic adenoma. For two years after this initial presentation, he had multiple hospitalizations for abdominal pain due to ruptured hepatic adenomas, with resultant bleeding requiring embolization. He was diagnosed with GSD type 1 based on clinical features including hepatomegaly, seizures, stunted growth, and normal spleen size. This diagnosis was confirmed, prior to his sixth embolization for ruptured adenoma, with genetic testing which showed 2 copies of pathogenic variant G6PC gene detected (c. 113A>T). On physical exam, he was found to have a protuberant abdomen with hepatomegaly, short stature, thin limbs, and subcutaneous nodules consistent with tophi. CT abdomen showed multiple adenomas, the largest measuring 7 x 7 cm in the caudate lobe. Liver tests showed ALT 46 U/L, AST 43 U/L, ALP 456 U/L, bilirubin 0.3 mg/dL. He has undergone serial imaging to evaluate for change in liver lesion size as adenoma transformation to hepatocellular carcinoma has been described. Nutrition consult was obtained as dietary modification to promote optimal metabolic control has been described in younger patients with smaller lesions. Liver transplantation was discussed as patient had large, multiple adenomas with bleeding. GSD type 1a, usually a pediatric diagnosis, can uncommonly be seen in adults. To date, there are only two reported cases of patients with a later diagnosis in adulthood, typically found in patients with mild disease. A presentation of adenomatosis without previous known GSD type 1a can occur and should prompt further evaluation for this genetic mutation even in adults, especially if other features are suggestive of this genetic disorder.Figure: Multiple adenomas seen on sagittal view of CT abdomen.Figure: Hepatomegaly and multiple adenomas on coronal view of CT abdomen.