Natural History of Hepatocellular Adenoma Formation in Glycogen Storage Disease Type I

Objective To characterize the natural history and factors related to hepatocellular adenoma (HCA) development in glycogen storage disease type Ia (GSD Ia). Study design Retrospective chart review was performed for 117 patients with GSD Ia. Kaplan-Meier analysis of HCA progression among two groups of patients with GSD Ia (5-year mean triglyceride concentration <= 500 mg/dL and >500 mg/dL); analysis of serum triglyceride concentration, body mass index SDS, and height SDS between cases at time of HCA diagnosis and age-and sex-matched control subjects. Results Logrank analysis of Kaplan-Meier survival curve demonstrated a significant difference in progression to HCA between the 5-year mean triglyceride groups (P = .008). No significant difference was detected in progression to adenoma event between sexes. Serum triglyceride concentration was significantly different at time of diagnosis of adenoma (737 +/- 422 mg/dL) compared with control subjects (335 +/- 195 mg/dL) (P = .009). Differences in height SDS (P = .051) and body mass index SDS (P = .066) approached significance in our case-control analysis. Conclusion Metabolic control may be related to HCA formation in patients with GSD Ia. Optimizing metabolic control remains critical, and further studies are warranted to understand the pathogenesis of adenoma development. (J Pediatr 2011;159:442-6).