Abstract
Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alphagalactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
Keywords: Fabry disease, diarrhoea, abdominal pain, gastrointestinal dysmotility, colitis.
Current Pharmaceutical Design
Title:Gastroenterological Complications of Anderson-Fabry Disease
Volume: 19 Issue: 33
Author(s): Piotr Buda, Janusz Ksiazyk and Anna Tylki-Szymaska
Affiliation:
Keywords: Fabry disease, diarrhoea, abdominal pain, gastrointestinal dysmotility, colitis.
Abstract: Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alphagalactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
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Cite this article as:
Buda Piotr, Ksiazyk Janusz and Tylki-Szymaska Anna, Gastroenterological Complications of Anderson-Fabry Disease, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990347
DOI https://dx.doi.org/10.2174/13816128113199990347 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
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