Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series

Purpose: This study aimed to illustrate the practical application and preliminary outcomes of a multidisciplinary team (MDT) approach in managing pediatric Fabry disease (FD), and provide a reference for the clinical management of this rare disease. Methods: This single-center, prospective, observational case series was conducted at Beijing Children's Hospital. Between March 2021 and February 2024, five pediatric patients with FD who were managed by a dedicated MDT were enrolled. The MDT operated under a model of "identification and initiation in outpatient clinics, overall management by the core team, and specialist consultation as needed." The workflow covered a dual-path diagnostic pathway (MDT-initiated or external referral), pedigree screening, baseline assessment, individualized treatment, and long-term follow-up. Results: Five pediatric FD probands were enrolled, with four diagnosed through the MDT-initiated pathway and one via external referral. For the four newly diagnosed patients, the MDT achieved a definitive diagnosis within 15-30 days of its engagement, despite a prior diagnostic odyssey of 2.0-5.9 years. Pedigree screening identified an asymptomatic sibling, enabling pre-symptomatic diagnosis. All patients commenced enzyme replacement therapy (ERT, agalsidase α) and did not develop adverse events. Through MDT coordination, they currently maintain continuous ERT at medical institutions with a travel time of 20 minutes to 2 hours. MDT-guided pain treatment, primarily with oxcarbazepine, effectively controlled neuropathic pain in most cases and improved quality of life. Psychosocial support alleviated family burdens, achieving treatment cost reimbursement rates of 60%-85%. At one-year follow-up, symptomatic improvement and significant reductions in globotriaosylsphingosine (Lyso-GL-3) levels were observed. Conclusion: The structured MDT approach facilitated accelerated diagnosis, early intervention, and comprehensive care in this pediatric FD cohort, yielding positive short-term outcomes and providing a practical reference for rare disease management.