An Overlooked Family with a Rare Mutation for Fabry Disease

Fabry disease is a rare disorder characterized by multi-organ involvement, caused by mutations in the GLA gene. Although more than 1,000 mutations have been identified in the GLA gene, the discovery and detection of new mutations continue to enhance this dataset. We report a patient examined at our clinic for heart valve disease, who had a history of kidney transplantation and hemodialysis. With a high clinical suspicion, we diagnosed Fabry disease and will discuss its significant impact on the family. Effective family screening allowed us to identify unaffected family members, thus preventing or mitigating potential future organ involvement. Additionally, the mutation found in this family, although rarely reported before, is still described as a variant of uncertain significance (VUS) in some sources. We believe this finding will make a valuable contribution to genetic literature.

Keywords: Fabry disease, GLA gene, family screening, genetics