Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)

Table 1 The LVMI and serum lyso-Gb3 changes after ERT in classical Fabry disease male and female patients

Classical FD patients	Parameters, patient numbers	Baseline (Mean ± SD)	After ERT (Mean ± SD)	P value
Male	LVMI (g/H2.7) N = 2	57.2 ± 0.1	46.8 ± 1.0	0.037*
	Compare between baseline and 1st Lyso-Gb3 (nM) N = 2	191.0 ± 17.9	76.1 ± 20.1	0.009*
	Compare between baseline and the last Lyso-Gb3 (nM) N = 2	191.0 ± 17.9	80.3 ± 15.3	0.010*
Female	LVMI (g/H2.7) N = 11	65.8 ± 30.1	62.6 ± 36.9	0.533
	LVMI (g/H2.7) N = 6**	66.7 ± 15.6	53.7 ± 17.3	0.016*
	Compare between baseline and 1st Lyso-Gb3 (nM) N = 11	16.3 ± 8.9	11.7 ± 6.2	0.005*
	Compare between baseline and the last Lyso-Gb3 (nM) N = 11	16.3 ± 8.9	11.7 ± 7.0	0.007*

*Asterisk represents statistically significant difference between the data of baseline and that after ERT (p < 0.05). ERT: enzyme replacement therapy; FD: Fabry disease; LVH: left ventricular hypertrophy; LVMI: left ventricular mass index; lyso-Gb3: globotriaosylsphingosine; SD: standard deviation.
**Case 3,4,6 were excluded in classical female FD’s LVMI comparison because these patient’s LVMIs were within normal limit at baseline. Case 12 and case 13 were excluded due to having risk factors for LVH.

ISSN: 1750-1172