title: A diagnosis of Fabry gastrointestinal disease by chance: a case report.
abstract: Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A. This determines an accumulation of globotriaosylceramide within lysosomes. The clinical picture is highly variable and depends on cellular storage deposition. Renal, cardiac and nervous system are the most frequent organs involved. Gastrointestinal involvement is also present, associated with other clinical signs of Fabry disease and sometimes can be a prominent clinical manifestation. We describe a Fabry disease case in which gastrointestinal involvement was the first and the only clinical sign of Fabry disease and a diagnosis of Fabry disease was made by chance during a family screening. Enzyme replacement therapy was started and after 3 months, there was a complete disappearance of signs.
authors.affiliation: Department of Nephrology and Dialysis, Florence, Italy. sandro.feriozzi@tiscali.it
authors.forename: Sandro
authors.initials: S
authors.lastname: Feriozzi
authors.forename: Elena Sanz
authors.initials: ES
authors.lastname: Torre
authors.forename: Teresa Valentina
authors.initials: TV
authors.lastname: Ranalli
authors.forename: Paolo
authors.initials: P
authors.lastname: Cardello
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Enzo
authors.initials: E
authors.lastname: Ancarani
mesh_terms: D000328:Adult; D003106:Colon / Q000473:pathology; D003113:Colonoscopy; D003424:Crohn Disease / Q000175:diagnosis; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis*; D006801:Humans; D007082:Ileum / Q000473:pathology; D033162:Incidental Findings; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D010375:Pedigree; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase