- Artikel
- Bron: Campus Sanofi
- 16 sep 2025
How to diagnose Fabry
Testing for Fabry is straightforward1,2
- α-GAL A enzyme assay and/or GLA gene sequencing
- In males, testing with genetic sequencing can identify the family gene variant
In females, GLA gene sequencing is required for diagnosis, as affected females may have normal to low enzyme activity.
In patients with unexplained hypertrophic cardiomyopathy (HCM), consider testing with an HCM panel that includes the GLA gene.
Though early diagnosis and treatment of Fabry disease are key to reducing the risk of irreversible complications, delays are still prevalent.1,3,4
- Patients with Fabry disease must often visit multiple specialists to obtain a correct diagnosis5
- Some patients may not obtain a correct Fabry disease diagnosis for more than 10 years3
ERT, enzyme replacement therapy.
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
Family screening
Think Fabry, think screening at-risk family members.
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
Family screening
Think Fabry, think screening at-risk family members.
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.
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Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
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Biegstraaten M, et al. OrphanetJ Rare Dis. 2015;10:36.
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Wilcox WR, et al. Mol Genet Metab. 2008;93(2):112-128.
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Mehta A, et al. J Med Genet. 2009;46(8):548-552.
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Germain DP. Orphanet J Rare Dis. 2010;5:30.
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Thurberg BL, et al. Hum Pathol. 2012;43(4):610-614.
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Hoffmann B, Mayatepek E. Dtsch Arztebl Int. 2009;106(26):440-447.
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Colomba P et al. Oncotarget. 2018;9:7758-7762.
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Laney D and Fernhoff P. J Genet Counsel. 2008;17:79–83.
Neem contact op
MAT-BE-2500570 (ver. 1) 05/2025