Piotr Buda, Janusz Ksi azyk and Anna Tylki-Szyma ska Pages 6009 - 6013 ( 5 )
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.
Fabry disease, diarrhoea, abdominal pain, gastrointestinal dysmotility, colitis.
, , The Children's Memorial Health Institute, Department of Pediatrics, 04-730 Al. Dzieci Polskich, Warsaw, Poland.