Senta Graf

Abstract Fabry disease (FD) constitutes a rare, X-linked lysosomal storage disorder affecting multiple organ systems, most notably heart, kidneys, and the central nervous system. Neurofilament light chains (NfL) have emerged as a prime candidate for a body fluid biomarker reflecting neuro-axonal injury. We aimed to evaluate its addition to the diagnostic and monitoring armamentarium in FD.

4. Discussion During long-term detailed patient monitoring, migalastat led to increased enzyme activity levels and a stable course of CMR and laboratory markers in our cohort of patients with different stages of Fabry disease.

1. Introduction In Fabry disease (FD), cardiac involvement is a major cause of premature death (1, 2). FD is a rare X-linked lysosomal storage multisystem disease because of the deficiency of the enzyme α-galactosidase A (AGAL). An ongoing cellular accumulation of globotriaosylceramide (Gb3) results in a progressive structural heart disease starting in childhood (3). The main aspect of developing cardiomyopathy in FD is left ventricular (LV) hypertrophy (LVH) (4).