When and How to Diagnose Fabry Disease in Clinical Pratice

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease

“…In FD women usually have a milder disease course than men, which is due to a random inactivation of the X chromosome. However, severe involvement of such target organs as the heart or kidneys is quite common (18). Despite residual enzyme activity, women with FD develop characteristic symptoms with age, including central nervous system symptoms.…”

“…Lyso-Gb3 levels in women increase with age and are within the normal range in childhood. However, when symptomatic FD is suspected in adult women, both measurement of α-Gal A and plasma lyso-Gb3 activity improves the diagnostic value (18).…”

Implications of Corneal Refractive Surgery in Patients with Fabry Disease

“…Other limitations to best corrected visual acuity in patients with Fabry disease include anterior subcapsular cataract, posterior subcapsular cataract (also known as a Fabry cataract), and corneal haze [ 13 ]. Fabry disease can also be associated with retinal vessel tortuosity, though vessel wall integrity is usually preserved.…”

LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease

“…Currently, measuring α-GAL A enzyme activity in plasma and genetic testing are the most common Fabry disease screening methods in clinical labs [21] , [22] , [23] , [24] . The heterogeneity between patients, even those having the same Fabry mutation, has been a considerable issue for Fabry patients’ diagnosis, especially for patients with some residual enzyme activity and patients with unknown mutations [25] .…”