Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease

LH Oterdoom, Karen Verweij, Katharina Biermann, Mirjam Langeveld, Henk van Buuren

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16 Citations (Scopus)


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 (HOC). 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 HOC 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 HOC 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 HOC should be considered. Also male patients with adenomas should have a thorough workup to reveal any underlying disease such as GSD.
Original languageUndefined/Unknown
Pages (from-to)515-518
Number of pages4
JournalJournal of Gastrointestinal and Liver Diseases
Issue number4
Publication statusPublished - 2015

Research programs

  • EMC COEUR-09
  • EMC COEUR-09-39-01
  • EMC MM-03-24-01

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