Gastrointestinal involvement in Fabry disease. So important, yet often neglected

Clinical Genetics
Juan M PoliteiA B Schenone

Abstract

Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are some of the most frequently reported complaints in patients with Fabry disease but are often neglected. Gastrointestinal symptoms are due to intestinal dysmotility as well as impaired autonomic function, vasculopathy and myopathy. Since 2001, enzyme replacement therapy has been a mainstay in treatment of gastrointestinal symptoms of Fabry disease (FD), resulting in reduced gastrointestinal symptoms. Here, we report on four patients with Fabry disease (FD) who manifested early gastrointestinal involvement.

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Citations

Jan 5, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Martina MasottiMarco Caprini
Apr 29, 2018·Orphanet Journal of Rare Diseases·Raphael SchiffmannKathleen Nicholls
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Jun 24, 2020·Orphanet Journal of Rare Diseases·Alessandro Di ToroEloisa Arbustini
Apr 4, 2021·International Journal of Environmental Research and Public Health·Fabio CaputoGiorgio Zoli
Aug 3, 2021·Curēus·Vlad VayzbandPaola Esparragoza

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