Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Abstract

BACKGROUND/AIMS:

Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextrin) in liver and muscle. Hepatic involvement is considered mild, self-limiting and improves with age. With increased survival, a few cases of liver cirrhosis and hepatocellular carcinoma (HCC) have been reported.

METHODS:

A systematic review of 45 cases of GSD III at our center (20 months to 67 years of age) was reviewed for HCC, 2 patients were identified. A literature review of HCC in GSD III was performed and findings compared to our patients.

CONCLUSIONS:

GSD III patients are at risk for developing HCC. Cirrhosis was present in all cases and appears to be responsible for HCC transformation There are no reliable biomarkers to monitor for HCC in GSD III. Systematic evaluation of liver disease needs be continued in all patients, despite lack of symptoms. Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the hepatocellular carcinoma in patients with GSD III.

• Authors: Erin Demo, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y T Chen, Priya S Kishnani
• Journal: Journal of hepatology (J Hepatol) Vol. 46 Issue 3 Pg. 492-8 (Mar 2007) ISSN: 0168-8278 [Print] Netherlands
• PMID: 17196294 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review, Systematic Review)

Topics

• Adolescent
• Adult
• Aged
• Carcinoma, Hepatocellular (etiology, pathology)
• Child
• Child, Preschool
• Disease Progression
• Female
• Glycogen Storage Disease Type III (complications, pathology)
• Humans
• Infant
• Liver (pathology)
• Liver Cirrhosis (etiology, pathology)
• Liver Neoplasms (etiology, pathology)
• Male
• Middle Aged
• Risk Factors