Table 1 Effect of ERT on clinical outcomes in FOS patients

Cardiovascular

Mean LVMI increased slightly but significantly over 10 years in patients with LVH at baseline, compared with no increases in patients with no LVH at baseline

Kampmann et al. [37]

Ramaswami et al. [38]

LVH was a significantly better predictor of long-term cardiovascular outcomes than normal LVMI in adults at the start of ERT

Feriozzi et al. [39]

Patients with a low eGFR at baseline had a significantly higher risk for a cardiovascular event compared to those with normal eGFR

Cardiovascular structure and function improved, and renal function stabilized during treatment, although LVMI was only reduced significantly in female patients

Hughes et al. [41]

Composite morbidity events occurred at an older age compared with published findings in untreated patients with FD

Beck et al. [47]

Renal

Stabilization of eGFR in female patients

10-year longitudinal data: Reduction in the annual rate of eGFR decline was smaller in treated male patients than expected in untreated patients

Mehta et al. [26]

Feriozzi et al. [52]

Feriozzi et al. [53]

Ramaswami et al. [38]

Patients with hyperfiltration (eGFR > 130 mL/min/1.73m²) at baseline attained an eGFR within the accepted normal range (> 90 mL/min/1.73m²) with 5 years of starting ERT

Mehta et al. [26]

Renal function remained stable in 20 patients with FD who had undergone kidney transplantation and who had received ERT

Cybulla et al. [56]

Renoprotective effect of ERT is independent of the type of FD mutation

Cybulla et al. [40]

Morbidity and Mortality

Most common cause of death shifted from renal disease (pre-2001) to cardiovascular disease (post-2001)

Mehta et al. [48]

Median survival for male ERT-treated patients at 5 years was 17.5 years longer than for untreated male patients

Beck et al. [36]

Probability of a composite morbidity event for ERT vs. placebo was ~ 16% vs. ~ 45%

Beck et al. [36]

Auditory

Stabilized and/or decreased the progression of hearing loss in FD

Hajioff et al. [62]

Gastrointestinal

Prevalence of abdominal pain in male patients and children and prevalence of diarrhea was significantly reduced after 1 year of ERT

Hoffmann et al. [63, 64]

Pain

Improved patient pain levels as assessed by the Brief Pain Inventory after 2 years of ERT

Hoffmann et al. [67]