Purpose: Both glycogen storage disease type Ia (GSD Ia) and tyrosinemia type I (TYR I) are inherited metabolic disorders that can be complicated by formation of liver adenomas in juvenile/young adult age and/or development of hepatocellular carcinoma. We describe the first application of stereotactic radiofrequency ablation (SRFA) in focal lesions in three patients with inherited metabolic disorders affecting the liver.
Methods: SRFA was applied for removal of single large liver adenomas in a 22-year-old woman and a 20-year-old man with GSD Ia and of a suspicious lesion in a 16-year-old girl with TYR I with α-fetoprotein (AFP) elevation.
Results: SRFA was successful. Large scars were avoided, and in the TYR I patient, elevated AFP values promptly returned to normal.
Conclusion: The SRFA technique is a good alternative to surgical resection of focal liver lesions and could greatly help patients with inherited metabolic disorders with liver involvement, including focal liver lesions and potential malignancy.