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JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.

Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

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Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 305H, Atlanta, GA, 30322, USA.
Department of Medical Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.
Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid, Madrid, Spain.
Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.
Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.
Fabry Disease Multidisciplinary Team, Departamento Dermatología y ETS, Hospital San Pablo de Coquimbo, Coquimbo, Chile.
Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.
University of Melbourne, Parkville, VIC, Australia.
Department of Internal Medicine II, Katharinen-Hospital Unna, Unna, Germany.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.


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.


Abdominal pain; Agalsidase beta; Diarrhea; Enzyme replacement therapy; Fabry disease; Fabry registry; Gastrointestinal symptoms

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