title: Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: L M
authors.initials: LM
authors.lastname: Franco
authors.forename: V
authors.initials: V
authors.lastname: Krishnamurthy
authors.forename: D
authors.initials: D
authors.lastname: Bali
authors.forename: D A
authors.initials: DA
authors.lastname: Weinstein
authors.forename: P
authors.initials: P
authors.lastname: Arn
authors.forename: B
authors.initials: B
authors.lastname: Clary
authors.forename: A
authors.initials: A
authors.lastname: Boney
authors.forename: J
authors.initials: J
authors.lastname: Sullivan
authors.forename: D P
authors.initials: DP
authors.lastname: Frush
authors.forename: Y-T
authors.initials: YT
authors.lastname: Chen
authors.forename: P S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000209:etiology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers; D002272:Carcinoembryonic Antigen / Q000097:blood; D006528:Carcinoma, Hepatocellular / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D011379:Prognosis; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D015415:Biomarkers; D002272:Carcinoembryonic Antigen; D000509:alpha-Fetoproteins