Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.

Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic variants in the gene encoding alpha-galactosidase A (GLA). Deficiency of GLA results in the progressive accumulation of glycosphingolipids in virtually all organs, resulting in a progressive multisystem disease. Due to multi-organ involvement in FD, a comprehensive, multidisciplinary approach to diagnosis and treatment with regular follow-ups is essential. The Pusan National University Yangsan Hospital (PNUYH) multidisciplinary care model of FD aims to provide detailed practice guidelines and evidence-based recommendations for the diagnosis, screening, and treatment of FD according to specialty. This guideline focuses on the "quarterback" type of multidisciplinary team (MDT) operation and is limited in its applicability to the Korean insurance system. However, it reflects our team's extensive experience and insights into optimizing MDT operations within these constraints and is expected to be highly beneficial for centers initiating MDTs for the effective treatment of FD.