Target Organ Damage in Fabry Disease

Anderson Fabry disease is a rare genetic disease characterized by a defect in a X-Linked gene, the alpha galactosidase. Due to the sexual chromosome localization of the gene, men patients present a more severe phenotype, characterized by an early occurrence of kidney failure, cardiac hypertrophy, neurological disorders including cryptogenic stroke, as well as pain, hypo hidrosis, skin lesions, corneal depositions, fatigue. Women affected by this disease present a late onset phenotype that is characterized by a lighter symptomatology, including fatigue and organ damage. Also, the number of mutations in the alpha galactosidase gene that could affect the enzyme activity or expression has raised up to over 1000. The association between genetic alterations and the phenotype severity is very much difficult to be identified.

Anderson Fabry disease patients have a reduced life span, and the need of multiple hospitalization, mostly due to kidney and cardiac failure. Newly developed Enzyme Replacement Therapy has recently changed that fate of patients, and has propelled research into the field for the identification of mechanisms of organ damage, biomarkers for prognostic stratification of patients, gene therapy.

This special issue is dedicated to all the authors that have helped to move forward the field. We are looking for papers illustrating new avenues in the physiopathology of the disease, either under the form of research report or as thematic review or expert opinion.

The Anderson Fabry disease indeed represents a prototype chronic disease model, which affects multiple organs and causes multimorbidity and accelerated aging: a model to test new hypothesis for promoting an healthy and active aging.