How to diagnose Fabry
Think Fabry, think timely testing first.
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.
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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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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).
Cardiac involvement in Fabry disease
Cardiovascular disease is the leading cause of death in Fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3
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