We report a case of pediatric Fabry disease in a girl whose pain was relieved and quality of life (QOL) improved with enzyme replacement therapy (ERT). Her father was diagnosed with Fabry disease based on the examination findings for pre-renal transplantation due to renal failure. Therefore, examinations were performed for her. Urinary mulberry bodies were positive, and the genetic analysis for α-galactosidase A (GLA) revealed a nonsense variant, leading to the diagnosis of pediatric Fabry disease. At 8 years of age, she presented with pain in the distal portion of the extremities and abdomen, which persisted despite oral carbamazepine. Therefore, ERT was provided. After initiation of ERT, blood lyso-Gb3 levels decreased, and extremity and abdominal pain improved. We asked her and her parent questions about QOL before and 12 months after the start of ERT. The European Quality of Life Five Dimension Youth showed improved scores for usual activities and pain or discomfort, and self-scoring of physical and mental condition on the European Quality of Life Visual Analogue Scale improved from 22 before ERT to 70 after 12 months of ERT. Pediatric Quality of Life also showed improved scores for physical and emotional functioning. Similar results were obtained by questioning the parent. Although the questionnaire is subjective and depends on the patient's physical condition at the time, we speculate that ERT improved QOL. Since the severity of clinical symptoms in women with Fabry disease varies, regular follow-up and appropriate intervention soon after the appearance of organ involvement are important to improve QOL and prevent complications.
