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.
Click on the dots to learn more.
Tap on the dots to learn more.
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.
Certain requesting specialties can arrange genetic testing to confirm a suspected Fabry disease diagnosis. Individuals diagnosed with Fabry disease should then be referred to a nominated ultra-specialist centre to access disease-specific therapies. Please refer to our ‘Genetic testing for Fabry disease’ page to find out more.
Com-NN-UKI-26-00018
May 2026
- 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 variants and inheritance
5.
Diagnosis of Fabry disease
