What is
Fabry disease?

What is Fabry disease?

Fabry disease is a rare disorder that affects many parts of the body. It comes from a mutation in a gene called GLA that causes a build-up of fatty materials in your cells and organs.

Fabry disease affects many parts of the body and may be the underlying cause of heart, kidney, or neurological problems, IBS (Irritable Bowel Syndrome), or experiencing stroke at a young age.

“For 15 years I was trapped in a cycle of symptoms, misdiagnosis, disappointment and fear before I was finally diagnosed with Fabry disease. After a series of dead ends and endless frustration, my doctor and I were able to work together to find my Fabry diagnosis.”

- James, 37*

*Fictitious patient

Is Fabry disease inherited?

Fabry disease is inherited. The genes we inherit from our parents consist of DNA. Genes are the set of instructions which tell our body how to grow, develop and function. Our genes are packaged into structures called chromosomes. There are two chromosomes that determine our sex, X and Y. Fabry disease is considered an X-linked disorder because the mutated gene that causes it is on the X chromosome.

Click on the image to see how Fabry disease is passed down in a family.

“My father passed away when I was just 13 years old at the age of 42 of a mysterious illness. When I was about 8, I started experiencing some of the same symptoms he had. I was terrified. Ten years after my father’s passing, I heard of Fabry disease on the internet and spoke to my doctor about it. My doctor and I worked together to find my diagnosis. It felt like a huge weight was lifted off my shoulders. The mysterious illness haunting my family finally had a name and a treatment.”

- Emily, 26*

*Fictitious patient

Does this mean women can’t get Fabry disease?

Women can get Fabry disease. The disease and its symptoms present and progress differently in females, but studies have shown that women with Fabry disease do have a wide range of symptoms. Since females have two copies of the X chromosome, one altered copy of the gene may lead to less severe/no symptoms.

What kind of disease is Fabry disease?

Fabry disease is referred to as a lysosomal storage disease (LSD) because it leads to an abnormal build-up of fatty materials in your lysosomes—structures in your body’s cells. Fabry disease is just one of about 50 LSDs that have been identified so far.

Is Fabry disease common in Canada?

Currently 450+ individuals in Canada are identified as having Fabry disease. It is estimated that Fabry disease will affect approximately 1 out of every 40,000-60,000 males and 1 out of 20,000 females. This means you are not alone, and there are support services available to you and your family members.

To learn more about the Canadian Fabry Association, a non-profit committed to Fabry disease,
visit: www.fabrycanada.com

Are there treatment options that can
help manage Fabry disease?

Yes, there are!

Fabry disease is not a curable condition, but it can be treated. Treatment can help you with some of the symptoms of your Fabry disease. Remember, the best advocate for your health is you. Before your next doctor’s appointment, print out the Fabry Disease Symptom Checklist, designed to help you talk to your doctor about your symptoms and Fabry disease testing. If you are already seeing a nephrologist, cardiologist or geneticist, bring the checklist to your next appointment

“Finally receiving a diagnosis of Fabry disease was such a relief. After years of dead ends, I finally had an answer. I am no longer alone – I know the name of my condition and can connect with others who have shared similar experiences to me”.

- Adam, 40*

*Fictitious patient