About Fabry disease
Clinical manifestations of Fabry disease
As discussed, Fabry disease is characterised by multiple organ pathology.1 Individuals with Fabry disease may experience a wide variety of signs and symptoms, including those in the figure below.
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Adapted from Germain 2010, Desnick et al 2003, Mehta et al 2010 and Bolsover et al 2014.1-4
For more detailed information on pathophysiology relating to specific organ systems, please view the pages on Nephrology, Cardiology and Neuropsychology and ophthalmology.
NP-NN-UKI-00051024
October 2024
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338–346.
- Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. Q J Med. 2010;103:641-59.
- Bolsover FE, Murphy E, Cipolotti L, et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis. 2014;37:177–187.
3.
GLA gene mutations and inheritance
5.
Diagnosis of Fabry disease
