Perception and knowledge of Fabry disease: a comparative survey of patients and medical professionals in South Korea

Abstract

Abstract Fabry disease (FD) is a rare X-linked lysosomal storage disorder associated with progressive multiorgan damage. Because perceptual differences between patients and clinicians regarding diagnosis and treatment can contribute to suboptimal management. We aimed to compare the perceptions of patients with FD and nephrologists in South Korea regarding the diagnostic process, treatment decisions, and genetic counseling. We conducted a cross-sectional survey enrolling 25 patients with FD, 33 patients with chronic kidney disease (without a known genetic etiology), and 27 nephrologists. The surveys assessed diagnostic testing considerations, treatment preferences, attitudes toward angiotensin-converting enzyme inhibitors/angiotensin receptor blockers (ACEi/ARB), and genetic counseling priorities. All three groups prioritized diagnostic accuracy, while both patient groups emphasized procedural concerns (e.g., pain from blood draw and blood loss risk) significantly more than clinicians. A perception gap existed regarding ACEi/ARB therapy: 92.3% of clinicians believed in its renoprotective effect, whereas only 26.1% of patients agreed to treatment without strong evidence. Both groups agreed on the importance of genetic counseling for family screening. Regarding treatment, 96% of patients and 81.5% of clinicians preferred oral over injectable enzyme replacement therapy. These significant perception gaps highlight the need for improved patient education and shared decision-making to enhance treatment adherence and clinical outcomes in FD management.