Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study.

backgroundFabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation of the gene that encodes the α-galactosidase A enzyme. Treatment for FD is based on an enzyme replacement therapy (ERT), such as agalsidase-β, agalsidase-α, and migalastat. However, studies analyzing effects and outcomes of ERT in FD patients in South Korea are limited. MATERIALS AND

methodsTreatment status and clinical outcomes of patients with FD in South Korea were investigated using data from the National Health Insurance Service (NHIS). The NHIS provides a comprehensive range of data across the entire Korean population, enabling an in-depth analysis of clinical outcomes associated with FD, including coronary composite heart disease, cerebrovascular disease, end-stage kidney disease (ESKD).

resultsA total of 228 patients with FD were discovered. The diagnosis was earlier in males (n = 120) than in females (n = 108). Almost 90% of patients were treated only with intravenous agalsidase-β or -α. A total of 15 patients switched from agalsidase to migalastat. All clinical outcomes manifested at an earlier age in males than in females. Particularly, ESKD was more prevalent in males, both before and after diagnosis of FD. Patients who had ESKD at the time of FD diagnosis exhibited a higher hazard ratio (HR) for mortality (HR: 5.01, 95% confidence interval: 1.44-17.46).

conclusionsOur study showed the current treatment status and clinical outcomes in patients with FD in South Korea. Prior to the diagnosis of FD, a considerable number of patients had already reached ESKD, suggesting a lack of awareness of FD among clinicians. Given the higher mortality rate observed in patients with FD and accompanying ESKD, the necessity to improve awareness of FD is highlighted to facilitate early diagnosis.