Abstract
PURPOSE: Anderson-Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (GLA). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary to manage them in a prefecture with a population of 1.48 million. METHOD: We included patients with GLA variants among patients diagnosed by genetic testing with AFD and managed at Shiga University of Medical Science from April 2010 and May 2024. The clinical information and data of the specialists engaged for the management of the patients were obtained from their medical records. RESULT: In this study, 14 individuals from five families (four males, 29 %) were diagnosed with AFD. The age at diagnosis ranged from 9 to 68 years (mean age 38 ± 20 years). The estimated prevalence in the prefecture was 0.99 per 100,000 people, 0.57 per 100,000 males, and 1.39 per 100,000 females. They received treatment by specialists from eight different departments, and the average number of departments in which they were managed was 3.3 overall, 4.2 for males, and 2.9 for females. CONCLUSION: The family history and genetic testing are useful for the precise diagnosis and treatment of patients with AFD. As such patients require interdisciplinary treatment, interdepartmental cooperation should be promoted for their systemic care.