Abstract
Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal alpha-galactosidase A. The disease affects not only kidney, myocardium, central nervous system and the skin but also, in many patients, the gastrointestinal tract. The recent advent of enzyme-replacement therapy has been reported to show beneficial effects on cardiomyopathy, renal function and autonomous nervous function. We report on a 34-year-old patient with Fabry disease in whom gastrointestinal symptoms were major complaints. Enzyme replacements led to remarkable improvement of diarrhoea and constipation. Abdominal pain, the feeling of fullness and meteorism improved, and metoclopramide, which previously had been used regularly, could be discontinued. There were also marked improvements of appetite, body weight, body mass index, physical activity and overall wellbeing. This observation should prompt further investigations into the pathophysiology of gastrointestinal manifestations in Fabry disease and the mechanisms of enzyme-replacement effects on gut function.
References
Mar 1, 1977·Annals of Internal Medicine·A BryanW A Burns
Nov 1, 1989·Digestive Diseases and Sciences·G F Nelis, G J Jacobs
Jul 5, 1973·The New England Journal of Medicine·R O BradyA S Dekaban
Nov 1, 1974·Annals of Internal Medicine·J W RoweT A Warthin
Feb 1, 1972·Archives of Disease in Childhood·D M FlynnE P Young
May 1, 1982·Neurology·W J CableR D Adams
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Dec 3, 1999·Nuclear Medicine Communications·C E ArgoffH A Ziessman
Jan 5, 2000·Proceedings of the National Academy of Sciences of the United States of America·R SchiffmannR O Brady
Feb 24, 2001·Lancet·F P PetersT L Kho
Jun 21, 2001·JAMA : the Journal of the American Medical Association·R SchiffmannR O Brady
Jul 7, 2001·The New England Journal of Medicine·C M EngUNKNOWN International Collaborative Fabry Disease Study Group
Nov 6, 2001·Journal of Medical Genetics·K D MacDermotA H Miners
Mar 14, 2002·Expert Opinion on Biological Therapy·Gregory M Pastores, Ravi Thadhani
Citations
Jun 9, 2005·Molecular Genetics and Metabolism·Maryam BanikazemiRobert J Desnick
Aug 12, 2014·Journal of the Neurological Sciences·Rima El-AbassiJohn D England
May 17, 2014·Journal of Inherited Metabolic Disease·L J AndersonS Logan
Feb 25, 2009·Expert Opinion on Biological Therapy·Michael Beck
Sep 4, 2015·Clinical Genetics·J PoliteiA B Schenone
Feb 18, 2016·Gastroenterology Research and Practice·Licia PensabeneDaniela Concolino
Oct 9, 2007·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Bjoern HoffmannUNKNOWN Fabry Outcome Survey European Investigators
May 28, 2008·Acta Paediatrica·Derralynn A Hughes
Mar 30, 2007·Acta Paediatrica. Supplement·Björn Hoffmann, Satish Keshav
Aug 10, 2010·Molecular Genetics and Metabolism·D A HughesUNKNOWN FOS Investigators
Jul 2, 2016·Therapeutic Advances in Gastroenterology·Claire Zar-KesslerBraden Kuo
Feb 3, 2007·European Journal of Gastroenterology & Hepatology·Sandro FeriozziEnzo Ancarani
Apr 4, 2021·International Journal of Environmental Research and Public Health·Fabio CaputoGiorgio Zoli
Nov 10, 2021·Endocrine·Christina BothouAlbina Nowak