Longitudinal study of hepatocellular adenoma formation and behavior in patients with hepatic GSD

Abstract

Background: Hepatic glycogen storage diseases (GSD) are associated with the formation of hepatocellular adenoma (HCA). Longitudinal data are scarce on HCA formation, their behavior and development into secondary complications, like bleeding and malignant transformation into hepatocellular carcinoma (HCC). Our aim is to study the epidemiology, formation and behavior of HCA in hepatic GSD patients. Methods: Retrospective single center cohort study of hepatic GSD patients in whom abdominal imaging was available. Results: Abdominal imaging was available in 131 out of 147 GSD patients. Nineteen out of 52 GSD Ia patients (8 males) developed HCA. No HCA were observed in other GSD subtypes than Ia. Median (range) age of HCA presentation was 22 years (17-43). Median age was significantly higher in patients with versus without HCA, 37 (22-49) versus 24 (1-59) years, respectively (p<0.05). Survival analysis revealed a peak incidence of HCA formation in the third decade of life. Four female patients without documented HCA developed HCC, with GSD Ia (n=2), IIIa (n=1) and IIIb (n=1). Surgery was performed in 11 patients with HCA or HCC. Neither clinically significant bleeding nor HCA- or HCC-related mortality was documented. Conclusion: We report lower incidence of HCA and related complications in hepatic GSD patients. Interestingly, besides in GSD Ia patients, no adenomas were documented in patients, including subtype GSD Ib and GSD III. HCA related complications (i.e. bleedings or malignant transformation) were not documented.