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Genetic and Rare Diseases Information Center (GARD)

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Fabry disease


Other Names for this Disease
  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Angiokeratoma, diffuse
  • Ceramide trihexosidase deficiency
More Names
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Your Question

Can women get Fabry disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Fabry disease?

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner.[1] Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.[2]
Last updated: 7/28/2011

How is Fabry disease inherited?

Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome.  In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition.  Because females have two copies of the X chromosome, one mutated copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.  [3]
Last updated: 7/28/2011

Can women have Fabry disease?

Yes. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many women who have only one mutated copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous-system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives. It is important to note that some females who carry a mutation in one copy of the GLA gene never have any signs and symptoms of Fabry disease.[3]
Last updated: 7/5/2013

What is X-inactivation? How might X-inactivation explain why some women who have a mutated copy of the GLA gene never develop signs and symptoms of Fabry disease and some women do?

As a review, men have one X chromosome and women have two.  In a process called X-inactivation, one of a woman's X chromosomes is "turned off."  This system of inactivation is usually random so that a woman's body has a mixture of cells in regard to the inactivated X chromosome.  That is to say, some cells will have the X chromosome that came from their mother switched off; other cells will have the X chromosome that came from their father inactivated.  The relative proportion of cells with an inactive maternal or paternal X chromosome varies from female to female (even between identical twins) because the process is usually random. [4]

Women who are "carriers" of a mutated gene on the X chromosome involved in conditions such as Fabry disease will have some cells in their body in which the mutated gene is activated and other cells in which the mutated gene is inactivated.  The usual random process of X-inactivation means that these women typically would not show any symptoms due to the mutated gene as there would be enough cells with the working copy of the gene to produce the necessary protein.  [4]

Rarely, some women have more cells in which the X chromosome carrying the mutated gene is active, so that these women do show some of the symptoms of these conditions due to the mutated genes.  In these rare cases, "skewed" X-inactivation has occurred.  [4] 
Last updated: 6/24/2013

What is known about the symptoms seen in women that develop Fabry disease?

The symptoms seen in carrier females for Fabry disease range from no symptoms throughout a normal lifespan to symptoms as severe as affected males. Although some women with Fabry disease remain symptom-free, others may show some symptoms of the disease with increasing age. However, women that have symptoms experience little difficulty in adult life when compared to affected males who may already have severe kidney, nervous system, and heart problems at the same age. Symptoms in female carrriers can be mild or more severe and life-threatening.

The mild type includes characteristic eye findings that do not affect vision, skin findings, pain in the arms and legs, and decreased sweating. In addition, carriers may have chronic abdominal pain and diarrhea.[5]

With advancing age, female carriers may develop mild to moderate enlargement of the left heart (left ventricular hypertrophy) and mild mitral valve prolapse. More serious manifestations in carrier females include significant left ventricular hypertrophy, enlargement of the heart (cardiomegaly), heart attacks, irregular heartbeats (cardiac arrhythmias), transient ischemia attacks, strokes, and kidney failure.[5]
Last updated: 7/5/2013

Where can I read more about Fabry disease and women?

The Department of Human Genetics at the Emory University School of Medicine has developed a fact sheet titled "Fabry Disease:  Important Facts for Women”. The Fabry Community website also offers a "Fabry Disease Guide for Women".

Last updated: 7/5/2013

References