title: Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.
abstract: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by accumulation of abnormal glycogen in muscle or liver or both. Specific hepatic complications include liver adenomas and hepatocellular carcinoma (HCC). Hepatocellular carcinomas described in GSD type I are often due to the degeneration of liver adenomas. Hepatocellular carcinoma in GSD type III, however, is rare and is thought to be associated with underlying cirrhosis.We present the case of a 63-year old male who was admitted for assessment of suitability for liver transplantation because of development of recurrent HCC in the presence of multiple liver adenomas. A diagnosis of GSD type III was made in this patient without underlying cirrhosis or metabolic disturbances resembling GSD. This case report is the first documentation of HCC development in an asymptomatic, non-cirrhotic patient with GSD type III. This raises the possibility that in GSD type III, the adenoma - carcinoma sequence can occur as it is also seen in GSD type I. Physicians taking care of GSD patients should be aware of this and some form of surveillance for cirrhosis and HCC should be considered. Also male patients with adenomas should have a thorough workup to reveal any underlying disease such as GSD.
authors.affiliation: Department of Gastroenterology and Hepatology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Leendert H
authors.initials: LH
authors.lastname: Oterdoom
authors.affiliation: Department of Gastroenterology and Hepatology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands. k.verweij@erasmusmc.nl.
authors.forename: K Evelyne
authors.initials: KE
authors.lastname: Verweij
authors.affiliation: Department of Pathology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Katharina
authors.initials: K
authors.lastname: Biermann
authors.affiliation: Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: Langeveld
authors.affiliation: Department of Gastroenterology and Hepatology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Henk R
authors.initials: HR
authors.lastname: van Buuren
mesh_terms: D018248:Adenoma, Liver Cell / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D001706:Biopsy; D006528:Carcinoma, Hepatocellular / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D017115:Catheter Ablation; D006010:Glycogen Storage Disease Type III / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006498:Hepatectomy; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local; D012086:Reoperation