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The female Fabry experience: a unique journey, overlooked in the past

In the past, women with Fabry were thought to be carriers who could not experience symptoms of the disease. However, new information has shown that female patients can experience symptoms just as severe as those experienced by male patients.1

Christy Fabry patient headshot Christy Fabry patient headshot Christy Fabry patient headshot

“[My Fabry diagnosis] became real when my sister Michelle started having really bad health issues because of Fabry. And that’s when I started thinking, if this is happening to her, what’s going to happen to me?”

–Christy, currently living with Fabry

of women with Fabry suffer significant burden of disease and reduced quality of life.2,3

Early diagnosis is critical in progressive diseases like Fabry, but female patients often experience significant delays in diagnosis, with a mean of 15.7 years between their first symptoms and being properly diagnosed with Fabry.3 These delays in diagnosis could have serious ramifications—if left unchecked, symptoms can progress significantly.3

Female Fabry patients commonly experience the following symptoms at a greater rate than observed in the general female population4:

Graphic showing Female Fabry symptoms Graphic showing Female Fabry symptoms Graphic showing Female Fabry symptoms

Female patients are at significant risk for cardiac, neurological, or renal involvement.1

Watch 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

The impact of Fabry on pregnancy

There are unique considerations for pregnant Fabry patients. It’s important to be aware that Fabry symptoms may increase during pregnancy, including5:

  • Proteinuria (37.2%)
  • Acroparesthesia (31.3%)
  • Constipation (29.4%)
  • Diarrhea (27.5%)
  • Headaches (22.5%)
Mandie Fabry patient headshot Mandie Fabry patient headshot Mandie Fabry patient headshot

“Pregnancy was very hard for me. No one really talked to me, no doctor talked to me about how high-risk it is to be a Fabry patient and be pregnant. I had fever crisis after fever crisis, and I didn’t know that that was dangerous. It’s just really important to know what can happen to you.”

–Mandie, currently living with Fabry

Pregnant women with Fabry may experience pregnancy complications linked to Fabry. In a retrospective study, 10.8% of patients experienced hypertension during pregnancy, which is higher than rates observed in the general population (6%).5

Family planning and Fabry disease

With a genetic disease like Fabry, the potential impact on biological children could be a significant concern for some patients. This makes a geneticist a critical part of disease management for female patients of childbearing age.6,7 They can help your patients understand the risks and identify other cases of Fabry in their family.

When having conversations with patients of childbearing age, consider also discussing treatment options with them—it may empower them to look toward the future.

“I knew I had Fabry and it was a risk, but we have a powerful tool, and that is hope. It was more empowering for us to make the decision [to have children] because our kids can lead healthy lives because of treatment.”

–Christy, currently living with Fabry

See patients discuss their experiences—watch the Living With Fabry: The Women’s View webinar


References: 1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30. 2. Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy population, and patients with other chronic disease. Genet Med. 2006;8(6):346-353. doi: 10.1097/01.gim.0000223545.63012.5a. 3. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34-45. doi:10.1097/GIM.0b013e31802d8321. 4. Bouwman MG, Rombach SM, Schenk E, et al. Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis. 2012;35:891-898. doi:10.1007/s10545-011-9447-9. 5. Holmes H, Laney D. A retrospective survey studying the impact of Fabry disease on pregnancy. JIMD Rep. 2015;21:57-63. doi:10.1007/8904_2014_384. 6. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548. doi:10.1097/01.gim.0000237866.70357.c6. 7. 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.