Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders

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. 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 alpha-fetoprotein (AFP) elevation. SRFA was successful. Large scars were avoided, and in the TYR I patient, elevated AFP values promptly returned to normal. 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.