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

  • William R. WilcoxEmail author
  • Ulla Feldt-Rasmussen
  • Ana Maria Martins
  • Alberto Ortiz
  • Roberta M. Lemay
  • Ana Jovanovic
  • Dominique P. Germain
  • Carmen Varas
  • Katherine Nicholls
  • Frank Weidemann
  • Robert J. Hopkin
Research Report
Part of the JIMD Reports book series (JIMD, volume 38)


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 



The authors would like to thank the many patients who have agreed to participate in the Fabry Registry as well as the physicians and research coordinators who have entered clinical data on behalf of these patients.

Supplementary material

464154_1_En_28_MOESM1_ESM.docx (39 kb)
Supplementary Table S1 Analysis of possible risk factors for lack of ERT response and occurrence of new abdominal pain (DOCX 39 kb)
464154_1_En_28_MOESM2_ESM.docx (39 kb)
Supplementary Table S2 Analyses of possible risk factors for lack of ERT response and occurrence of new diarrhea (DOCX 38 kb)


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • William R. Wilcox
    • 1
    Email author
  • Ulla Feldt-Rasmussen
    • 2
  • Ana Maria Martins
    • 3
  • Alberto Ortiz
    • 4
  • Roberta M. Lemay
    • 5
  • Ana Jovanovic
    • 6
  • Dominique P. Germain
    • 7
  • Carmen Varas
    • 8
  • Katherine Nicholls
    • 9
    • 10
  • Frank Weidemann
    • 11
  • Robert J. Hopkin
    • 12
  1. 1.Department of Human GeneticsEmory University School of MedicineAtlantaUSA
  2. 2.Department of Medical Endocrinology, RigshospitaletCopenhagen University HospitalCopenhagenDenmark
  3. 3.Reference Center for Inborn Errors of MetabolismFederal University of São PauloSão PauloBrazil
  4. 4.Unidad de Dialisis, IIS-Fundacion Jimenez DiazUniversidad Autonoma de MadridMadridSpain
  5. 5.Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi GenzymeCambridgeUSA
  6. 6.Mark Holland Metabolic Unit, Salford Royal NHS Foundation TrustSalfordUK
  7. 7.Division of Medical GeneticsUniversity of Versailles – St Quentin en Yvelines, Paris-Saclay UniversityMontignyFrance
  8. 8.Fabry Disease Multidisciplinary Team, Departamento Dermatología y ETSHospital San Pablo de CoquimboCoquimboChile
  9. 9.Department of NephrologyRoyal Melbourne HospitalParkvilleAustralia
  10. 10.University of MelbourneParkvilleAustralia
  11. 11.Department of Internal Medicine IIKatharinen-Hospital UnnaUnnaGermany
  12. 12.Division of Human GeneticsCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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