Premium
Gastrointestinal involvement in Fabry disease. So important, yet often neglected
Author(s) -
Politei J.,
Thurberg B.L.,
Wallace E.,
Warnock D.,
Serebrinsky G.,
Durand C.,
Sche A.B.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12673
Subject(s) - fabry disease , globotriaosylceramide , medicine , gastrointestinal disease , gastroenterology , disease , enzyme replacement therapy , abdominal pain , gastrointestinal disorder , gastrointestinal function , diarrhea , nausea , gastrointestinal system , metabolic disorder
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.