A diagnosis of Fabry gastrointestinal disease by chance: a case report.
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.
Feriozzi
Sandro
S
Department of Nephrology and Dialysis, Florence, Italy. sandro.feriozzi@tiscali.it
Torre
Elena Sanz
ES
Ranalli
Teresa Valentina
TV
Cardello
Paolo
P
Morrone
Amelia
A
Ancarani
Enzo
E
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
D007527:Isoenzymes; D000519:alpha-Galactosidase