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

Publication ,  Journal Article
Franco, LM; Krishnamurthy, V; Bali, D; Weinstein, DA; Arn, P; Clary, B; Boney, A; Sullivan, J; Frush, DP; Chen, Y-T; Kishnani, PS
Published in: J Inherit Metab Dis
2005

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.

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Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

2005

Volume

28

Issue

2

Start / End Page

153 / 162

Location

United States

Related Subject Headings

  • alpha-Fetoproteins
  • Ultrasonography
  • Tomography, X-Ray Computed
  • Prognosis
  • Male
  • Liver Neoplasms
  • Humans
  • Glycogen Storage Disease Type I
  • Genetics & Heredity
  • Female
 

Citation

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MLA
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Franco, L. M., Krishnamurthy, V., Bali, D., Weinstein, D. A., Arn, P., Clary, B., … Kishnani, P. S. (2005). Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis, 28(2), 153–162. https://doi.org/10.1007/s10545-005-7500-2
Franco, L. M., V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, et al. “Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.J Inherit Metab Dis 28, no. 2 (2005): 153–62. https://doi.org/10.1007/s10545-005-7500-2.
Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis. 2005;28(2):153–62.
Franco, L. M., et al. “Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.J Inherit Metab Dis, vol. 28, no. 2, 2005, pp. 153–62. Pubmed, doi:10.1007/s10545-005-7500-2.
Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, Boney A, Sullivan J, Frush DP, Chen Y-T, Kishnani PS. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis. 2005;28(2):153–162.
Journal cover image

Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

2005

Volume

28

Issue

2

Start / End Page

153 / 162

Location

United States

Related Subject Headings

  • alpha-Fetoproteins
  • Ultrasonography
  • Tomography, X-Ray Computed
  • Prognosis
  • Male
  • Liver Neoplasms
  • Humans
  • Glycogen Storage Disease Type I
  • Genetics & Heredity
  • Female