Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
AuthorHopkin, RJ; Feldt-Rasmussen, U; Germain, DP; Jovanovic, A; Martins, AM; Nicholls, K; Ortiz, A; Politei, J; Ponce, E; Varas, C; ...
Source TitleMolecular Genetics and Metabolism Reports
University of Melbourne Author/sNicholls, Kathleen
AffiliationMedicine and Radiology
Document TypeJournal Article
CitationsHopkin, R. J., Feldt-Rasmussen, U., Germain, D. P., Jovanovic, A., Martins, A. M., Nicholls, K., Ortiz, A., Politei, J., Ponce, E., Varas, C., Weidemann, F., Yang, M. & Wilcox, W. R. (2020). Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. MOLECULAR GENETICS AND METABOLISM REPORTS, 25, https://doi.org/10.1016/j.ymgmr.2020.100670.
Access StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606866
Background: Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in classically affected male patients. Clinical presentations in males with later-onset Fabry phenotypes are more heterogeneous and largely dependent on the level of residual α-galactosidase A activity. Methods: We assessed agalsidase beta treatment outcomes of gastrointestinal symptoms in adult males with classic or later-onset Fabry disease. Self-reports of abdominal pain and diarrhea ('present'/'not present' since previous assessment) at last clinical visit (≥0.5 year of follow-up) were compared with treatment-baseline. Results: Classic male patients were considerably younger at first treatment than the fewer males with later-onset phenotypes (36 vs. ~47 years) and reported gastrointestinal symptoms more frequently at baseline (abdominal pain: 56% vs. 13%; diarrhea: 57% vs. 23%). As compared with baseline, significantly fewer classic patients reported abdominal pain after a median of 4.7 years of treatment (N = 171, 56% vs. 41%, P < 0.001). Moreover, significantly fewer patients reported diarrhea after 5.5 years of follow-up (N = 169, 57% vs. 47%, P < 0.05). Among the males with later-onset phenotypes, albeit statistically non-significant, abdominal pain reports reduced after a median of 4.2 years (N = 48, 13% vs. 4%) and diarrhea reports reduced after a median of 4.4 years of treatment (N = 47, 23% vs. 13%). Conclusions: Sustained treatment with agalsidase beta was associated with improvement in abdominal pain and diarrhea in a significant proportion of classic male Fabry patients. Males with later-onset phenotypes reported gastrointestinal symptoms much less frequently at baseline as compared with classic patients, and non-significant reductions were observed.
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