Family screening
Think Fabry, think screening at-risk family members.1
Clinical and genetic screening of family members can decrease time to diagnosis for at-risk family members and ensure earlier and more effective disease-specific management of Fabry disease before progression.1,9
Create a detailed family history following the X-linked inheritance pattern to identify at-risk family members9
Adapted from Laney D and Fernoff P. 2008.9
5 additional family members are newly diagnosed (previously undiagnosed) on average through family screening of one Fabry index patient.9
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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.
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
Renal involvement in Fabry disease
Think Fabry, think renal involvement that may present early in life and could go undetected.