A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

Table 1 Demographic characteristics of Taiwanese patients with MRI data registered in FOS as of March 2014

Characteristic	IVS4 mutation n = 25	Classical Fabry mutations n = 12	P-value
Sex, n (%)
Male	19 (76.0)	4 (33.0)	0.0274^a
95% CI	0.55-0.91	0.10-0.65
Female	6 (24.0)	8 (67.0)
Age at symptom onset, years^c
Mean (SD)	50.3 (7.8)	9.5 (2.0)
95% CI	46.2-54.5	8.1-10.9
Median (range)	48.0 (38.0-65.0)	10.0 (6.0-12.0)	<0.0001^b
Age at diagnosis, years
Mean (SD)	57.6 (6.9)	39.8 (14.5)
95% CI	54.7-60.4	30.6-49.1
Median (range)	59.0 (42.0-67.0)	40.0 14.0-60.0)	0.0001^b
Age at FOS entry, years
Mean (SD)	59.7 (6.7)	42.4 (14.1)
95% CI	56.9-62.5	33.4-51.4
Median (range)	60.3 (44.8-69.7)	43.3 (17.4-61.2)	<0.0001^b
Received ERT, n
Yes	25	12	NA
95% CI	0.86-1.00	0.74-1.00
Age at treatment start, years
Mean (SD)	58.6 (6.8)	40.9 (14.5)
95% CI	55.8-61.5	31.7-50.1
Median (range)	59.7 (44.1-68.3)	40.9 (14.9-61.3)	0.0001^b
MRI after treatment initiation, n (%)
Yes	25 (100.0)	10 (83.3)	0.0991^a
95% CI	0.86-1.00	0.52-0.98
Age at MRI assessment, years
Mean (SD)	60.0 (6.8)	42.6 (14.3)
95% CI	57.2-62.8	33.6-51.7
Median (range)	60.7 (45.0-70.4)	43.0 (18.0-61.4)	0.0001^b

ERT, enzyme replacement therapy; FOS, Fabry Outcome Survey; IVS4, IVS4+919G>A; MRI, magnetic resonance imaging; NA, not available
^aFisher’s exact test
^bWilcoxon rank-sum test
^cData missing from 9 IVS4 (n = 16) and 2 classical FD (n = 10) patients

ISSN: 1471-2377