Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Issue 1 (29th September 2015)

• Record Type: Journal Article
• Authors: Politei, J.; Thurberg, B.L.; Wallace, E.; Warnock, D.; Serebrinsky, G.; Durand, C.; Schenone, A.B.
• Is Part Of: Clinical genetics. Volume 89:Issue 1(2016)
• Page Start: 5
• Page End: 9
• Publication Date: 2015-09-29
• Subjects: α‐galactosidase A -- enzyme replacement therapy -- Fabry disease; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12673
• Languages: English
• ISSNs: 0009-9163

Abstract

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.