Fabry disease

Diagnosis and Testing

What tests are used to monitor Fabry disease?

Although different Fabry specialists and centers may vary slightly in their test and time schedule. Current accepted and recommended global studies to evaluate Fabry-related symptoms exist and may be performed on an annual basis:

  • CBC, platelet count, serum creatinine + BUN, GL3 (blood and urine), Lyso-GL3, thyroid studies, and a basic metabolic chemistry panel
  • Routine Urinalysis
  • 24 hour Urine with creatinine, glomerular filtration rate, and protein clearance
  • Random urine measuring total protein and creatinine levels
  • EKG
  • Echocardiogram
  • Cardiac MRI (at baseline and as indicated)
  • Brain MRI or Head CT (at baseline and as indicated)
  • Hearing test
  • Eye exams
  • Pulmonary function tests
  • Depression/Anxiety assessment

For additional questions about these monitoring tests and when they should be scheduled, please refer to your Fabry doctor or a genetic counselor. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.

Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.

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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