For some patients experiencing poor kidney function, there may be an underlying genetic cause—Fabry disease. Understanding Fabry disease may be especially important for patients who experience impaired kidney function and for clinicians who treat them, because it is often misdiagnosed. If left untreated, Fabry disease can lead to kidney failure and other serious health problems.
What is Fabry Disease?
Fabry disease is a rare, genetic disease found in approximately 1 out of 117,000 people. It is caused by a deficiency of the enzyme alpha galactosidase A, also known as alpha GAL, which breaks down a fatty substance called GL-3 in the body. The deficiency causes a build-up of GL-3 in cells throughout the body, eventually affecting the kidneys, heart, skin, brain and gastrointestinal system. In the kidneys, the build-up of GL-3 impairs their ability to filter waste and chemicals in the body. Left untreated, this can gradually lead to end stage renal disease, where dialysis or kidney transplantation may be the only viable treatment options.
What are the Symptoms of Fabry Disease?
In Fabry patients, disease progression is often unpredictable, and symptoms can range from mild to severe. While the signs of the disease typically appear in childhood, the disease is often not diagnosed because many symptoms mimic other diseases such as rheumatoid or juvenile arthritis. However, there have been some instances where people do not experience any symptoms until well into adulthood. In addition to impaired kidney function, symptoms of Fabry disease include:
- pain, typically in the hands and feet
- clusters of small, dark red spots on the skin
- decreased ability to sweat
- chronic fatigue
- heat intolerance
- cloudiness of the front part of the eye
- gastrointestinal system problems
- ringing in the ears
- hearing loss
What are the causes of Fabry Disease?
A genetic or “family” disease, Fabry Disease is passed down from a parent to his or her children. The defective gene associated with Fabry is inherited through the mother and is located on the X chromosome. If a person has the Fabry gene, he or she can pass the gene on to their children. There is a difference in the way males and females pass the gene on to their children. Males with Fabry disease pass the gene on to all of their daughters, but not sons, while females with Fabry disease can pass the gene on to both their daughters and sons.
How is Fabry Disease Diagnosed?
Genetic testing can be used to confirm a diagnosis of Fabrys Disease. Due to the progressive nature of the disease, early diagnosis and intervention is important. Once a mutation is found it is easy to screen the rest of the family.
Free Fabry Diagnostic Testing & Education Project
The FREE Fabry Diagnostic Testing and Education Project, run by the AAKP and supported by educational donations from Amicus Therapeutics and Sanofi-Genzyme, Inc., is a special program designed to test individuals who have health issues seen more often in Fabry Disease and/or have a known family history of Fabry Disease.
Need testing? First talk with your doctor about testing, then order a testing kit. Kits can be ordered by emailing the project team at firstname.lastname@example.org or by calling AAKP’s testing partners at the Emory Fabry Center at (404) 778-8518 or (800) 200-1524.
Have questions about the program, testing, or forms? Please contact the Emory project team at email@example.com or (404) 778-8518 or (800) 200-1524.
In order for a free test kit to be shipped to you, you will need to provide a mailing address and tell indicate if you would like a saliva collection kit or a blood draw kit.
Forms as well as shipping materials will be included with the kit. Forms can also be downloaded below.