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.
