Expert opinion on facilitating intrafamily communication in rare diseases—Lessons from Fabry disease

Fabry disease (FD, OMIM 301500) is a rare X-linked lysosomal disorder characterized by remarkable heterogeneity in its manifestations and age of onset, leading to significant diagnostic delays.1,2 In FD, pathogenic variants of the GLA gene lead to the functional deficiency of α-galactosidase A, causing progressive accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3) and its deacylated form globotriaosylsphingosine (lyso-Gb3), in various tissues/organs, plasma, and urine.1 FD can manifest as “classic” early-onset or “later-onset” forms in both males and females.