Fabry Disease in Women

Changing the “carrier” perception

Fabry disease was once thought to affect only males; females were generally considered to be only “carriers” of the defective gene, and not vulnerable to Fabry disease symptoms. A carrier does not express the trait, but when mated with another carrier, can produce offspring that do. The medical community is learning that females with the defective gene are more than carriers, and do, in fact, develop a wide range of symptoms.

The importance of taking care of yourself

Women often place a great priority on the health of their family. If you are a woman with Fabry disease, it is important that you take care of yourself.

You may have been told for years that you were “only a carrier”, or you may feel that your disease is not as bad as that of close male relatives such as your son or father. As understanding of Fabry disease improves, the importance of testing for women with a family history of this progressive, potentially life-threatening disease is becoming increasingly clear. If you suspect Fabry disease, speak to your doctor about appropriate medical care.

Taking care of your health also means nurturing your emotional well-being. Consider tapping into a support network. You are not alone. There are many women like you with Fabry disease, and support is available.

Find a support group »

Where did the “carrier” concept come from?

The “carrier” concept holds true for many X-linked genetic disorders, but not for Fabry disease.

The defective gene that causes Fabry disease is located on the X chromosome. Males have only one X chromosome, so when they carry the defective gene, they will likely not be able to make enough alpha-GAL to prevent GL-3 build-up.

Common thinking once held that, since females have two X chromosomes, their unaffected chromosome should be able to compensate for the affected chromosome.

Why some women and not others?

Some women who carry the defective gene will develop symptoms, while others will not. Each cell in a female’s body contains two X chromosomes, but one is “inactive” or “turned off” through a normal process called X-inactivation. This process occurs randomly in cells while a baby is developing in her mother’s womb. Statistically, 50% of a female’s cells should have one X chromosome working, and 50% should have the other X chromosome working. However, like flipping a coin, 50-50 odds do not always result in a perfect 50-50 split.

Each organ in a female’s body has its own X-inactivation pattern. In a female who has the defective gene, one organ may have 60% of her healthy X chromosomes working, while another organ may have only 30% working. A female’s specific X-inactivation pattern can cause her to have some symptoms of Fabry disease, but not others. It can also determine how severe those symptoms will be.

Learn how Fabry disease is inherited »

Which symptoms affect women?

In general, Fabry disease symptoms can occur later and are less severe in women than in men, but this is not always the case. Depending on her X-inactivation pattern, females may develop the following symptoms:

  • Nervous system symptoms: these are the most common Fabry disease symptoms in both men and women, and include tingling or burning sensation in the hands and feet1
  • Heart problems: angina, irregular heartbeat, and shortness of breath occur almost as often in women as men2
  • Stroke and other cerebrovascular problems: these may actually be more common in females than in males3
  • Kidney problems: these may include proteinuria, a potentially damaging excess of protein in the urine, which may lead to renal failure4
  • Rashes: about 20% of females develop purplish skin rashes (angiokeratomas)5
  • Gastrointestinal: about half of females may experience recurring abdominal pain and diarrhea6
  • Corneal whorling: about half of females have a characteristic starburst pattern in their eyes that an eyecare specialist can detect (it typically does not affect vision)7

Learn more about symptoms »

Diagnosing Fabry disease in women

In males, a lack of alpha-GAL activity shows that they inherited the defective gene. Males can usually be diagnosed through a blood test that measures alpha-GAL enzyme activity. Females however can have a nearly normal amount of alpha-GAL in their blood and still carry the defective gene.  For females with normal to low-normal alpha-GAL, a genetic test is needed for accurate diagnosis.

The benefit of genetic testing is that it allows a woman to be diagnosed definitively. Testing can confirm or rule out the presence of defective gene. A negative test can relieve uncertainty, while a positive test can allow a person to pursue medical options. Because Fabry disease is progressive, early intervention is important.

Download: A Guide for Women Living with Fabry Disease

Current research demonstrates that females with the defective gene do, in fact, have a wide range of symptoms. This brochure explains how Fabry disease affects females, as well as inheritance patterns, the benefit of genetic testing, and information on finding support.

A Guide for Women Living with Fabry Disease (PDF) 

References:

1. Genzyme Fabry Registry data on file

2. Mehta A, R Ricci, U Widmer, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242. Page 240, Column 1, Paragraph 2

3. Mehta A, R Ricci, U Widmer, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242. Page 240, Column 1, Paragraph 3

4. Genzyme Fabry Registry data on file

5. Genzyme Fabry Registry data on file

6. Mehta A, R Ricci, U Widmer, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242. Page 240, Column 1, Paragraph 5, Sentence 2

7. Mehta A, R Ricci, U Widmer, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242. Page 240, Column 1, Paragraph 5, Sentence 1