title: Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).
abstract: OBJECTIVE
  Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).
  
  
  METHODS
  Retrospective cohort study.
  
  
  METHODS
  Tertiary medical centre.
  
  
  METHODS
  21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with classic Fabry disease (4 men and 11 women) treated with biweekly intravenous infusions of agalsidase β (1 mg/kg) or agalsidase α (0.2 mg/kg) for at least 6 months.
  
  
  METHODS
  These data were collected at the time before enzyme replacement therapy (ERT) began and followed up after ERT for at least 6 months, including patient demographics, medical history, parameter changes of cardiac status and renal functions, plasma globotriaosylsphingosine (lyso-Gb3) and Mainz Severity Score Index.
  
  
  RESULTS
  After 6-39 months of ERT, plasma lyso-Gb3 was found to be reduced in 89% (17/19) and 93% (14/15) of patients with cardiac-type and classic Fabry disease, respectively, which indicated an improvement of disease severity. For patients with cardiac-type Fabry disease, echocardiography revealed the reduction or stabilisation of left ventricular mass index (LVMI), the thicknesses of intraventricular septum (IVS) and left posterior wall (LPW) in 83% (15/18), 83% (15/18) and 67% (12/18) of patients, respectively, as well as 77% (10/13), 73% (11/15) and 60% (9/15) for those with classic type. Most patients showed stable renal function after ERT. There were statistically significant improvements (p<0.05) between the data at baseline and those after ERT for values of plasma lyso-Gb3, LVMI, IVS, LPW and Mainz Severity Score Index. No severe clinical events were reported during the treatment.
  
  
  CONCLUSIONS
  ERT is beneficial and appears to be safe for Taiwanese patients with cardiac-type Fabry disease, as well as for those with the classic type.
authors.affiliation: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Hao-Chuan
authors.initials: HC
authors.lastname: Liu
authors.forename: Yu-Hsiu
authors.initials: YH
authors.lastname: Huang
authors.forename: Hsuan-Chieh
authors.initials: HC
authors.lastname: Liao
authors.forename: Ting-Rong
authors.initials: TR
authors.lastname: Hsu
authors.forename: Chia-I
authors.initials: CI
authors.lastname: Shen
authors.forename: Shao-Tzu
authors.initials: ST
authors.lastname: Li
authors.forename: Cheng-Fang
authors.initials: CF
authors.lastname: Li
authors.forename: Li-Hong
authors.initials: LH
authors.lastname: Lee
authors.forename: Pi-Chang
authors.initials: PC
authors.lastname: Lee
authors.forename: Chun-Kai
authors.initials: CK
authors.lastname: Huang
authors.forename: Chuan-Chi
authors.initials: CC
authors.lastname: Chiang
authors.forename: Ching-Yuang
authors.initials: CY
authors.lastname: Lin
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
keywords: Fabry disease; IVS4+919G>A; enzyme replacement therapy; globotriaosylsphingosine; hypertrophy