Fabry disease affects everyone differently and symptoms can vary between individuals – even those within the same family. As a result, identifying Fabry disease can be difficult due to variable signs and symptoms which can affect a number of different organs.
While Fabry disease is considered “rare,” the disease manifestations often mimic other conditions making diagnosis difficult. It is estimated that patients visit an average of 10 different specialists before a Fabry disease diagnosis is confirmed, leading to a delay of approximately 10 years from the onset of first symptoms to diagnosis.
Recognize the signs & symptoms of Fabry disease using this Fabry disease symptom tool.Open the Tool
Diagnosis in males can be made by testing for deficiency of the alpha-Gal A enzyme which when low, commonly means Fabry disease. Further GLA gene testing may be conducted to confirm the diagnosis of Fabry disease and identify the specific genetic mutation.
Females must have GLA gene testing for a diagnosis and to identify the specific genetic mutation
Fabry disease is caused by a mutation in a gene called GLA. The GLA gene is located on the X chromosome which is why Fabry disease is referred to as an X-linked disorder.
Men and women can both be affected by Fabry disease but the chances of passing down a mutation on the GLA gene are different.
Testing for Fabry disease and early diagnosis is important as it may enable:
A father affected by Fabry disease will pass the Fabry mutation on to all of his daughters but none of his sons:
This is because the father only has one X chromosome that must contain the Fabry mutation – his daughters will inherit this, but his sons won’t (they will inherit his Y chromosome)
A mother affected by Fabry disease has a 50:50 chance of passing the Fabry mutation onto any of her daughters or sons:
This is because the mother has two X chromosomes, and either the X chromosome with the Fabry mutation or the X chromosome without the Fabry mutation could be passed randomly onto her children
Below are downloadable resources to help individuals with a Fabry diagnosis reach out to talk to their family about the risk of Fabry.
This booklet is designed to help people with Fabry disease understand why their family members may be at risk of Fabry; the benefits of knowing about and potentially being tested for Fabry; what the next steps could be for their relatives; and the important points to convey to relatives.Download
Just as early identification and diagnosis of Fabry disease is important, ongoing monitoring of symptoms and the disease is also important.
Because everyone experiences Fabry disease differently and symptoms can change over time, it is essential to work with your doctor(s) to monitor all the different parts of your body affected by Fabry disease.
Take the wheel during your next appointment and utilize this Fabry Discussion Driver. This guide was created to help you have a productive discussion with your healthcare provider by allowing you to organize your thoughts ahead of time. As this is only a guide, please be sure to talk to your healthcare provider about any additional information you would like to discuss or questions you may have.