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.1,2
Create a detailed family history following the X-linked inheritance pattern to identify at-risk family members2
Adapted from Laney D and Fernoff P. 2008.2
5 additional family members are newly diagnosed (previously undiagnosed) on average through family screening of one Fabry index patient.2
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Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
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Laney D and Fernhoff P. J Genet Counsel. 2008;17:79–83.
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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).
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