- Artikel
- Bron: Campus Sanofi
- 16 sep 2025
Family screening
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
How to diagnose Fabry
Think Fabry, think timely testing first.
Monitoring disease progression
Think Fabry, think regular profile-based assessments.
How to diagnose Fabry
Think Fabry, think timely testing first.
Monitoring disease progression
Think Fabry, think regular profile-based assessments.
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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