FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.
Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients.
Nephrology and Dialysis Department , Infermi Hospital , Viale Settembrini, 2 - 47900 Rimini , Italy.
Renzo
R
Mignani
Department of Health Sciences, University of Milano-Bicocca and Nephrology Unit , San Gerardo Hospital , Via Giambattista Pergolesi, 33 - 20052 Monza , Italy.
Federico
F
Pieruzzi
Statistic department Ibis Informatica , Via Carlo D'Adda, 8 - 20143 Milano , Italy.
Francesco
F
Berri
Neurological Unit, Department of Internal Medicine , St Bassano Hospital , Via Dei Lotti, 40 - 36061 Bassano del Grappa , Italy.
Alessandro
A
Burlina
Statistic department Ibis Informatica , Via Carlo D'Adda, 8 - 20143 Milano , Italy.
Benito
B
Chinea
Nephrology and Dialysis Unit, San Carlo Borromeo Hospital, Department of Biomedical and Clinical Sciences 'Luigi Sacco' , University of Milano , Via Pio II, 3 - 20153 Milano , Italy.
Maurizio
M
Gallieni
Cardiovascular Department , San Donato Hospital , Via Curtatone 54 - 52100 Arezzo , Italy.
Maurizio
M
Pieroni
Department of Neurological and Movement Sciences , University of Verona , Piazzale Ludovico Antonio Scuro, 10 - 37134 Verona , Italy.
Alessandro
A
Salviati
Department of Pediatrics , University of Torino , Piazza Polonia, 94 - 10126 Torino , Italy.
Marco
M
Spada
Fabry disease; disease progression; disease stability; organ dysfunction scores; α-galactosidase A/α-galactosidase A deficiency
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