Hsieh, Pei-FengPei-FengHsiehLin, Po-YuPo-YuLinNI-CHUNG LEECHIH-HAO CHENSung, Pi-ShanPi-ShanSungJYH-MING JIMMY JUANGYA-FANG CHENYIN-HSIU CHIENJIANN-SHING JENGSUNG-CHUN TANG2025-05-052025-05-05202509296646https://scholars.lib.ntu.edu.tw/handle/123456789/728836Background and objectives: Fabry disease (FD) is a multisystem lysosomal storage disorder with central nervous system and cardiac involvement. Although FD is associated with varying severity of white matter hyperintensity (WMH) on brain magnetic resonance imaging (MRI), cerebral microbleeds (CMBs) have been less studied. This study examined CMBs in FD and identified their association with clinical parameters. Methods: We retrospectively enrolled patients with FD followed up at two medical centers in Taiwan. All underwent brain MRI, including susceptibility-weighted imaging. CMB distribution was determined using the Microbleed Anatomical Rating Scale framework. Results: Among the 26 enrolled patients (mean age: 55.8 years, 92 % men), 22 received regular enzyme replacement therapy before MRI. The median [interquartile] Fazekas score for periventricular and deep white matter was 1 [0,1] and 1 [1,1], respectively. CMBs were detected in 16 (62 %) patients, with 94 % (n = 15) exhibiting lobar involvement, either in a mixed pattern (n = 8) or a strictly lobar distribution (n = 7). The lobar CMB + had significantly higher plasma lyso-Gb3 levels (6.37 [4.58–18.20] vs. 3.4 [2.25–5.05] ng/mL, p = 0.021), greater left ventricular posterior wall thickness (LVPWd; 14.4 ± 2.4 vs. 11.8 ± 2.7 mm, p = 0.019), and a higher prevalence of dipstick proteinuria (73 % vs. 18 %, p = 0.015). After adjustment for variables, LVPWd remained independently associated with lobar CMBs (odds ratio: 1.83, 95 % CI: 1.01–3.34). Conclusion: Lobar-predominant CMBs were common in our FD cohort and were associated with cardiomyopathy but not with cerebral small vessel disease imaging markers. Further research is needed to explore the causal relationship.entrueCerebral microbleedsFabry diseaseHypertrophic cardiomyopathyLobar-predominant[SDGs]SDG2journal article10.1016/j.jfma.2025.04.020402630812-s2.0-105003126459