Will the FAbry STabilization indEX make its way to everyday clinical practice?

Abstract

Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani et al. report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Mignani et al. succeeded in validating the tool in a large cohort of Fabry patients, including females and non-classical phenotypes, building on the first FASTEX introduction in 2016. We report on our own practical experience with the tool and comment on some limiting factors in its use as well as possible future prospects.

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

“…Indeed, five of the six variables included in the cardiac item refer to extracardiac symptoms (eGFR, proteinuria, deafness, vertigo, and angiokeratoma). The online Fabry Stabilization index (FASTEX) was recently validated [33], and the authors established an attractive tool for personal follow-up of individuals.…”