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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.

Author information

1
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 305H, Atlanta, GA, 30322, USA. william.wilcox@emory.edu.
2
Department of Medical Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
3
Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.
4
Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid, Madrid, Spain.
5
Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.
6
Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
7
Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.
8
Fabry Disease Multidisciplinary Team, Departamento Dermatología y ETS, Hospital San Pablo de Coquimbo, Coquimbo, Chile.
9
Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.
10
University of Melbourne, Parkville, VIC, Australia.
11
Department of Internal Medicine II, Katharinen-Hospital Unna, Unna, Germany.
12
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Abstract

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.

KEYWORDS:

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

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