Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-
galactosidase, GLA. In patients with
Fabry disease,
glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained
enzyme replacement therapy (ERT) with
agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received
agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal symptoms (
abdominal pain,
diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean
treatment duration 5.7 years. Baseline pre-treatment
abdominal pain was reported by 45% of females and
diarrhea by 39%. At last follow-up, 31% reported
abdominal pain (p < 0.01) and 27%
diarrhea (p < 0.01). The results of this Fabry Registry analysis suggest that while on sustained treatment with
agalsidase beta (1.0 mg/kg every 2 weeks), both
abdominal pain and
diarrhea improved in many female patients with
Fabry disease.