Fabry's Disease: The Utility of a Multidisciplinary Screening Approach

Background: As a lysosomal storage disorder, Fabry's disease (FD) shows variableclinical manifestations. We applied our multidisciplinary approach to identify any organ damage ina sample of adult patients with different pathogenic variants. Methods: 49 participants (meanage 44.3 14.2 years; 37 females), underwent a multidimensional clinical and instrumental assessment.Results: At diagnosis, mean enzymatic activity was 5.2 4.6 nM/mL/h in femalesand 1.4 0.5 nM/mL/h in males (normal values > 3.0), whereas globotriaosylsphingosine was2.3 2.1 nM/L in females and 28.7 3.5 nM/L in males (normal values < 2.0). Overall, cardiovascular,neurological, and audiological systems were the most involved, regardless of the variantdetected. Patients with classic variants (10) showed typical multiorgan involvement and, in somecases, prevalent organ damage (cardiovascular, neurological, renal, and ocular). Those with late-onsetvariants (39) exhibited lower occurrence of multiorgan impairment, although some of them affectedthe cardiovascular and neurological systems more. In patients with lower enzymatic activity, the mostfrequent involvement was neurological, followed by peripheral vascular disease. Conclusions: FDpatients exhibited wide phenotypic variability, even at single-organ level, likely due to the individualgenetic mutation, although other factors may contribute. Compared to the conventional management,a multidisciplinary approach, as that prompted at our Center, allows one to achieve early clinicaldetection and management.