Glycogen Storage Disease Type 1b (GSD Type 1b) is predominantly diagnosed in childhood. Rare cases emerging in adulthood present a unique set of clinical challenges, particularly concerning liver lesions.
We report a 22-year-old male diagnosed unusually late with GSD Type 1b, underlining the hepatic complexities involved. He initially presented with hepatomegaly and solid nodular lesions in the liver. An abdominal magnetic resonance imaging (MRI) revealed a sizable hepatocellular adenoma (HCA), subsequently removed through surgical segmentectomy. Histopathology confirmed the lesion as a hepatocyte nuclear factor-1 alpha (HNF-1alpha) mutation-positive HCA. Follow-up MRI revealed the persistence of multiple smaller liver nodules, necessitating continued clinical surveillance.
Hepatic adenomas are a common complication in GSD Type 1 patients, posing management challenges due to their size, multiplicity, and risk of malignancy. While liver transplantation is a last resort option, it can worsen metabolic control. Sodium-glucose cotransporter-2 (SGLT-2) inhibitors offer a potential alternative for improving glycemic regulation and possibly affecting the adenoma size.