Fabry disease education for you
What is Fabry disease?
Fabry disease is a rare genetic condition that runs in families. Classic Fabry disease is found in roughly 1 in 40,000 males and 1 in 20,000 females.
Like all LSDs, Fabry disease is chronic and progressive, meaning it can get worse over time. Symptoms often go unrecognized and misdiagnosed; however, the earlier Fabry disease is diagnosed, the sooner it can be appropriately managed.
If you think you or a family member may have Fabry disease, talk to a doctor about possible next steps such as getting tested.
What causes Fabry disease?
Fabry disease is caused by alterations in the GLA gene. This gene produces an enzyme called alpha-galactosidase A, or alpha-GAL. Alterations in the GLA gene result in reduced alpha-GAL production.
Alpha-GAL is responsible for breaking down a fatty substance called globotriaosylceramide, or GL-3. Reduced alpha-GAL can result in a buildup of GL-3, and an altered version of GL-3 known as lyso-GL-3, which can cause damage to tissues throughout the body.
What are common Fabry disease symptoms?
Fabry disease symptoms can vary widely, even within the same family. An individual with Fabry disease may experience only one symptom or all of them, and symptoms may range from mild to severe. Common symptoms can include:
- Burning pain in primarily hands and feet
- Unexplained fever
- Decreased sweating, intolerance to heat and cold
- Small red/purple lesions (angiokeratomas) on the skin, primarily between the navel and knees or “bathing trunk area”
- Diarrhea, constipation, abdominal pain
- Kidney failure
- Irregular heartbeat and other heart problems
- Risk of stroke and ministroke (transient ischemic attack)
*These are not all possible symptoms, nor do all patients have all the listed symptoms.
Who does Fabry disease affect?
Fabry disease can affect males and females of all ages. Males experience the full range of symptoms, whereas symptoms vary more in females due to how it is inherited. Females may experience symptoms as severely as men, or may have milder symptoms, or may have severe symptoms in some organs but not in others.
How is Fabry disease inherited?
Fabry disease is an X-linked condition, meaning the altered GLA gene that causes Fabry disease is on the X chromosome. Females inherit two X chromosomes (one from each biological parent), whereas males inherit only one X chromosome (from their mother).
When a father has Fabry disease, there is a 100% chance that the altered GLA gene will pass to all daughters and a 0% chance that it will pass to sons.
When a mother has Fabry disease, there is a 50% chance with each birth that the altered GLA gene will pass to either sons or daughters.
CareConnect Patient Education Liaisons can provide patients with a family tree to help them understand the inheritance within their own family and who may be affected or at risk.
Sign up for personalized support
At CareConnect, we offer personalized support and resources to help you and your family navigate life with Fabry disease. Your Patient Education Liaison (PEL) can assist you with disease and Sanofi treatment education, and information about inheritance patterns, genetic assessment and testing options. Your Case Manager can talk to you about health insurance, financial assistance, and care coordination.
Keep in mind: Your healthcare team is always the best source of information and point of contact if you have any questions or concerns about your health.
If you’re not enrolled and interested in speaking with a CareConnect team member, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM EST.
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Call 1-800-745-4447 or email info@CareConnectPSS.com.
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Explore more resources
Learn more about Fabry disease at discoverfabry.com
MAT-US-2409357-v1.0-11/2024. Last Updated: November 2024