Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Journal Article (Journal Article)

We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients but one were noncompliant with treatment. Hepatic masses were first detected at an age range of 13-45 years (mean 28.1 years). Age at diagnosis of HCC ranged from 19 to 49 years (mean 36.9 years). Duration between the diagnosis of liver adenomas and the diagnosis of HCC ranged from 0 to 28 years (mean 8.8 years, SD = 11.5). Two patients had positive hepatitis serologies (one hepatitis B, one hepatitis C). Alpha-fetoprotein (AFP) was normal in 6 of the 8 patients. Carcinoembryonic antigen (CEA) was normal in the 5 patients in which it was measured. Current guidelines recommend abdominal ultrasonography with AFP and CEA levels every 3 months once patients develop hepatic lesions. Abdominal CT or MRI is advised when the lesions are large or poorly defined or are growing larger. We question the reliability of AFP and CEA as markers for HCC in GSD Ia. Aggressive interventional management of masses with rapid growth or poorly defined margins may be necessary to prevent the development of HCC in this patient population.

Full Text

Duke Authors

Cited Authors

  • Franco, LM; Krishnamurthy, V; Bali, D; Weinstein, DA; Arn, P; Clary, B; Boney, A; Sullivan, J; Frush, DP; Chen, Y-T; Kishnani, PS

Published Date

  • 2005

Published In

Volume / Issue

  • 28 / 2

Start / End Page

  • 153 - 162

PubMed ID

  • 15877204

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/s10545-005-7500-2


  • eng

Conference Location

  • United States