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.