Fabry disease


How should gastrointestinal symptoms in Fabry disease be monitored?

Doctors who focus on gastrointestinal (GI) issues are called gastroenterologists or GI doctors. Fabry focused healthcare providers and GI doctor work together to learn more about a specific person's GI issues and come up with the best treatment plan. Important things to know when putting together a treatment plan include:

  • specific GI symptoms (diarrhea, nausea, vomiting, constipation, pain)
  • timing (time of day and how close to times of eating food or drinking)
  • frequency (how often they occur)
  • severity (how mild or severe they are over time)

Some doctors use charts or questionnaires to record this information, others ask for the information during discussions in person. It is important to note that other common health problems like ulcers, gastroesophageal reflux, poor nutrition, celiac disease, malabsorption, pancreatitis, and vitamin deficiencies can also cause GI symptoms and should be tested for to rule out these disorders which would be unrelated to Fabry disease. These would be treated differently.

Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005 Aug;85(4):255-9.

Burlina AP, KB Sims, JM Politei, GJ Bennett, R Baron, C Sommer, AT MØller, MJ Hilz. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011 May 27;11:61.

Hoffmann B, Schwarz M, Mehta A, Keshav S: Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007, 5:1447-1453.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in Infancy and Early Childhood: A systematic literature review. Genetics in Medicine. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.

Mehta, Gastrointestinal manifestations of Fabry disease. In: Elstein, etc Sunder-Plassmann G (eds) Fabry disease. Ann Intern

Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.

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