Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I

Abstract

Hepatocellular adenomas (HCAs) are a common complication in patients with glycogen storage disease type I (GSD I). In this series, we report regression of HCAs in a cohort of patients who achieved metabolic control with strict dietary therapy. A retrospective review of the clinical records for all patients with GSD I was performed at our institution. All available imaging studies were reviewed in patients with reported regression of HCAs in the medical record. The charts of 163 patients with GSD Ia and 42 patients with GSD Ib were reviewed, and HCAs were documented in 47 subjects (43 Ia/4 Ib). After review of all available imaging studies, eight patients met criteria of being followed with both magnetic resonance imaging and ultrasound and were found to show evidence of regression of HCAs. In these individuals, regression of the HCAs occurred once metabolic control was obtained, as determined by decreasing levels of serum triglyceride levels. The average triglyceride level in all patients prior to regression of HCAs was 753 mg/dL (SD ± 293). The average serum triglyceride level in all patients at the time of regression of HCAs was 340 mg/dL (SD ± 164). These findings suggest that strict dietary therapy may cause regression of HCAs. If HCAs are documented in a patient with suboptimal metabolic control, intensive medical therapy may be an alternative to surgical intervention in some individuals.

Fig. 1

Post-contrast (gadoxetate disodium) MRI of a patient with GSD I with HCAs. (a) Fat-saturated T1-weighted post-contrast axial MR image of the superior liver obtained after intravenous bolus injection of gadoxetate disodium demonstrates multiple large lesions in the liver consistent with HCAs, two of the lesions are measured. (b) Fat-saturated T1-weighted post-contrast axial MR image of the superior liver obtained after intravenous bolus injection of gadoxetate disodium in the same patient 4 years later demonstrates decrease in size of the multiple HCAs, two of which are measured for comparison. (c) Fat-saturated T1-weighted post-contrast axial MR image of the inferior liver obtained after intravenous bolus injection of gadoxetate disodium in the same patient at the same time as the image in (a) demonstrates a large HCA involving the inferior right hepatic lobe (lesion is measured). (d) Fat-saturated T1-weighted post-contrast axial MR image of the inferior liver obtained after intravenous bolus injection of gadoxetate disodium in the same patient four years later, at the same time as the image in (b), demonstrates significant decrease in size of the HCA, measured for comparison

Fig. 2

Computed tomography (CT) and MRI of a patient with GSD I with HCAs. (a) Axial CT image of the liver after administration of iodinated contrast demonstrates two hypodense lesions within the liver representing HCAs (black and white arrows). (b) Axial CT image of the liver after administration of iodinated contrast in the same patient 18 months later demonstrates decrease in size of the HCA in segment 4 of the liver (black arrow). The lesion in the right hepatic lobe, white arrow in (a), has completely resolved. (c) Axial fat-saturated T1-weighted post-contrast MR image of the liver obtained after intravenous bolus injection of gadoxetate disodium in the same patient 8 years later demonstrates continued decrease in size of the segment 4 HCA (black arrow)

Fig. 3

MRI of a patient with GSD I with HCAs. (a) Coronal non-contrast T2-weighted MR image of the abdomen in a patient with GSD I demonstrates a mildly hyperintense lesion (white arrow) in the left lobe of the liver inferior to the diaphragm consistent with a HCA. (b) Coronal non-contrast fat-saturated T2-weighted MR image of the abdomen in the same patient 4 years later demonstrates significant decrease in size of the HCA in the left hepatic lobe (black arrow)

Fig. 4

CT and MRI of a patient with GSD I with HCAs. (a) Axial CT image of the abdomen with oral contrast and without intravenous contrast in a patient with GSD I demonstrates a hypodense lesion in the inferior right hepatic lobe consistent with a HCA (black arrow). (b–d) Axial non-contrast T1-weighted MR image (b), axial post-contrast T1-weighted MR image (c), and axial non-contrast T2-weighted MR image (d) at the same level as (a) in the same patient 14 months later demonstrate complete resolution of the inferior right hepatic lobe HCA