It’s time to rethink the prevalence of Fabry disease symptoms in women.

In a study of the 1077 women enrolled in the global Fabry Registry*:


had signs or symptoms of Fabry disease,
at a median age of onset of 13 years.6


experienced major cerebrovascular, cardiac, or renal events at a median age of 46 years.6

Change how you see her Fabry disease symptoms.

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*The Fabry Registry is an ongoing, global observational database sponsored by Genzyme that tracks natural history and outcomes of patients with Fabry disease.7

All patients with a confirmed diagnosis of Fabry disease are eligible for enrollment irrespective of their treatment status and regardless of symptomology.6,7

The expert scientific consensus: women with Fabry disease may benefit from earlier treatment.10

Therapeutic recommendations established by Fabry disease experts state that thorough and frequent monitoring of women with Fabry disease is vital to ensure women can benefit from early treatment to prevent the onset of irreversible organ damage.6,10,11

Change how you see her Fabry disease treatment.

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Don't her out from treatment. 

Despite the expert scientific consensus that heterozygous women are eligible for
Fabry disease treatment, many are still missing out.4-6,10

Change how you see Fabry. Change how you see your female patients' treatment. 

Change how you see her Fabry disease symptoms.

Women’s varied symptom presentation compared to men’s can make Fabry disease hard to spot in female patients.2

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Change how you see her Fabry disease diagnostic testing.

An average lag time of 18 years exists between the onset of symptoms and diagnosis for women with Fabry disease, despite 84% having a positive family history.6

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Change how you see her Fabry disease symptoms.

Thorough and frequent monitoring is needed to ensure women with Fabry disease have early access to the treatment they need.3,6,10

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  1. Deegan PB et al. J Med Genet 2006; 43(4): 347–352.
  2. Germain DP et al. Mol Genet Metab 2019; 126(3): 224–235.
  3. Germain DP. Orphanet J Rare Dis 2010; 5: 30. 
  4. Barba-Romero MA and Pintos-Morell G. Int J Mol Sci 2016; 17(12): 1965. 
  5. Lenders M et al. Orphanet J Rare Dis 2016; 11(1): 88
  6. Wilcox WR et al. Mol Genet Metab 2008; 93(2): 112–28. 
  7. Fabry Disease Registry & Pregnancy Sub-registry. Available at: Accessed; April 2021. 
  8. Laney DA et al. J Genet Couns 2013; 22(5): 555–64.
  9. Linhorst G et al. J Am Coll Cardiol 2008; 51(21): 2082.
  10. Wanner C et al. Mol Genet Metab 2019; 126(3): 210–211.
  11. Ortiz A et al. Mol Genet Metab. 2018; 123(4): 416–427.

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