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.

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

“…It is interesting that in these studies, improvement occurred when mean triglycerides fell to 370 [±196] mg/dL. This is very similar to the concentration reported by Beegle et al where regression of adenomas occurred …”

“…More recently, Beegle et al demonstrated that regression of hepatic adenomas identified with both ultrasound and MRI could occur with improvement in metabolic control. Not only did adenomas regress with good control, but also 6 of 9 patients with serial MRI scans had complete disappearance of lesions after a mean of 4.8 years . The relationship between adenoma formation and metabolic control has yet to be elucidated, but the prevalence of adenoma formation has steadily been decreasing (Table ) as metabolic control has improved.…”

High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia

“…While survival was rare prior to the 1970s, most patients with GSD Ia and Ib are now doing well into adulthood Visser et al 2000). With aging, long-term complications have been appreciated, including the development of hepatic adenomas (Beegle et al 2015), hepatocellular carcinomas (Limmer et al 1988), osteoporosis (Minarich et al 2012), and hepcidininduced anemia (Wang et al 2012). IBD may be a 11.7 complication of GSD Ia that has been recently uncovered.…”

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

“…Extended release waxy maize cornstarch was introduced in 2009 as the first new treatment for the hepatic GSDs, but the product was approved as a medical food based solely upon short-term studies (Bhattacharya et al 2007). Long-term complications in GSD I can be delayed or prevented with achievement of optimal metabolic control (Beegle et al 2015;Minarich et al 2012;Tsilianidis et al 2013;Wang et al 2011). It is therefore imperative that outstanding metabolic control is maintained, and it is reassuring that the biochemical studies have remained stable in this cohort chronically treated with the new therapy.…”