This article evaluates satisfaction with enzyme replacement therapy (ERT) at home and at hospital in adult patients with Fabry and Gaucher diseases. A questionnaire was developed and sent to 34 patients with Fabry disease who were receiving ERT with agalsidase alfa (Replagal) and to 49 patients with type I Gaucher disease who were receiving ERT with glucocerebrosidase (Cerezyme). Of the 45 returned questionnaires, 20 were from patients with Fabry disease and 25 from patients with Gaucher disease. Hospital treatment visits were reported as stressful by 18 patients (40%), whereas only 4 (9%) patients reported that home therapy was stressful. Both groups of patients adjusted well to receiving home-based therapy. Nearly all of the patients with Fabry disease (19 patients, 95%) and Gaucher disease (21 patients, 84%) preferred home-based therapy. Treatment in the home was reported as more comfortable, less stressful, more effective and had less impact on family life. Only 4 (9%) patients chose to continue receiving infusions in hospital. The majority of patients with Fabry disease and Gaucher disease found home-based therapy to be more convenient and less stressful than hospital-based therapy.

Aim: To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa. Methods: Fifteen male patients with Fabry disease were enrolled in a randomized, double‐blind study and received placebo (n= 8) or ERT (n= 7) with agalsidase alfa for 6 months. This was followed by an open‐label extension of 36 months thus far. Alongside this trial, an additional eight men and two women have so far received open‐label ERT for between 6 and 30 months. Pure‐tone audiometry, impedance audio‐metry and otoacoustic emission testing were performed at 0 (baseline), 6, 18, 30 and 42 months. Results: Nine patients (36%) had bilateral and ten (40%) had unilateral high‐frequency sensorineural hearing loss (SNHL). Three (12%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only five patients (20%) had normal hearing. The high‐frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 6.3 dB (p < 0.0001, Wilcoxon matched‐pairs). This hearing loss subsequently improved above baseline by 1.5 dB at 18 months (p = 0.07), by 5.0 dB at 30 months (p= 0.006) and by 4.0 dB at 42 months (p= 0.01). Conclusion: Significant hearing loss, usually high‐frequency SNHL, is a common manifestation of Fabry disease in adults. α‐Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement, however, is gradual, suggesting the need for long‐term ERT.

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