Lee DoHyeon, Park Samel, Yu Hyejin, Cho Eunjung, Han Seung Seok, Koh Eun Sil, Chung Byung Ha, Jeong Kyung Hwan, Choi Soo Jeong, Lee Eun Young, Kim Su Hyun, Bae Eun Hui, Yoo Sunyong, Kwon Young Joo
Department of Intelligent Electronic and Computer Engineering, Chonnam National University, Gwangju, South Korea.
Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, South Korea.
Orphanet J Rare Dis. 2025 Jul 10;20(1):355. doi: 10.1186/s13023-025-03863-5.
Fabry 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.
Treatment 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).
A 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).
Our 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.
法布里病（FD）是一种X连锁溶酶体贮积病，由编码α-半乳糖苷酶A的基因突变引起。FD的治疗基于酶替代疗法（ERT），如阿加糖酶β、阿加糖酶α和米加司他。然而，分析ERT对韩国FD患者的疗效和结果的研究有限。
利用韩国国民健康保险服务（NHIS）的数据，调查了韩国FD患者的治疗状况和临床结果。NHIS提供了覆盖全体韩国人口的全面数据，从而能够深入分析与FD相关的临床结果，包括冠状动脉复合性心脏病、脑血管疾病、终末期肾病（ESKD）。
共发现228例FD患者。男性（n = 120）的诊断时间早于女性（n = 108）。几乎90%的患者仅接受静脉注射阿加糖酶β或α治疗。共有15例患者从阿加糖酶转换为米加司他。所有临床结果在男性中出现的年龄均早于女性。特别是，ESKD在男性中无论是在FD诊断之前还是之后都更为普遍。在FD诊断时患有ESKD的患者表现出更高的死亡风险比（HR）（HR：5.01，95%置信区间：1.44 - 17.46）。
我们的研究显示了韩国FD患者的当前治疗状况和临床结果。在FD诊断之前，相当数量的患者已经发展到ESKD，这表明临床医生对FD缺乏认识。鉴于FD合并ESKD患者的死亡率较高，强调提高对FD的认识以促进早期诊断的必要性。
