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Understanding the experience of patients with Fabry

Is it time to rethink our approach for female patients with Fabry?

Female patients, once thought to be asymptomatic carriers only, are now known to be at risk for symptoms just as severe as what male patients experience.1

Experts discuss: how women experience Fabry disease—and unique considerations for their care

What are the experts saying?

  • Female patients can experience severe clinical signs even if they are asymptomatic
  • Female patients may experience disease as severe as male patients
  • Evaluate and monitor all patients, male and female

Female patients should be assessed and monitored just as male patients are.2 Fabry disease may affect female patients in unique ways1:

Their alpha-galactosidase A activity may be within the normal range, making diagnosis more difficult

They become symptomatic an average of 10 years later than male patients

They are highly likely to develop cardiac, neurological, or renal involvement

Presentation of Fabry varies widely in female patients—consistent evaluation and monitoring are critical to address disease progression.1,2

The genetic effect of Fabry—a family disease

Diagnosing Fabry disease can be difficult, but one diagnosis has the potential to uncover more cases of Fabry in a family. An average of 5 additional patients are identified after the diagnosis of one family member.2

Graphic showing the inheritance pattern of Fabry. Graphic showing the inheritance pattern of Fabry. Graphic showing the inheritance pattern of Fabry.

Family planning is a significant decision for any patient with a genetic disease such as Fabry. A genetic counselor may be able to help your patients understand the risks.2

Starting the conversation

Your patients may not know how to ask their family members to get tested for Fabry disease. To help them get the conversation started, you can suggest that your patient:

Let their family members know that Fabry disease can progress without outward signs—but that it can still do damage below the surface2,3

Share with their family members that both males and females can pass down Fabry2

Offer to attend appointments with their family member for support

Remind their family members that treatment is available, but that it cannot help them until they’re diagnosed—and that begins with a conversation with their doctor

Encourage your patients to discuss genetic testing with their families—and rethink their current understanding of Fabry.


References: 1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30. 2. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 3. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346. doi:10.7326/0003-4819-138-4-200302180-00014.