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)

• DOI: 10.1186/s13023-014-0111-y
• Publication Date: 2014-07-21T14:40:30Z
• Authors: Hao-Chuan Liu; Hsiang-Yu Lin; Chia-Feng Yang; Hsuan-Chieh Liao; Ting-Rong Hsu; Chiao-Wei Lo; Fu-Pang Chang; Chun-Kai Huang; Yung-Hsiu Lu; Shuan-Pei Lin; Wen-Chung Yu; Dau-Ming Niu
• Keywords: Alpha-galactosidase; Globotriaosylceramide; Lyso-

In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 females) of cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes suitable biomarkers for monitoring therapeutic these patients are largely unknown.Fabry disease (FD) who had received enzyme replacement therapy (ERT) more than 1 year were enrolled this study from December 2008 to April 2013. Periodic echocardiography serum globotriaosylsphingosine (lyso-Gb3) analysis carried out. Before after ERT, left ventricular mass index (LVMI) lyso-Gb3 level compared correlation between change LVMI also analyzed.Thirty-six patients, four patient groups, enrolled: (1) 16 with IVS4 A mutation; (2) 7 females (3) 2 classical mutations; (4) 11 mutations. The follow-up period was 13-46 months. There significant reductions ERT all groups excluding confounding factors. interestingly, decreased significantly early but increased gradually an average 11.1 months late-onset male female even when their still or remained stable. Furthermore, there no both FD patients.Although has diagnostic sensitivity good response during stages, it might not be reliable marker Chinese hotspot