How is Fabry disease managed?

Managing Fabry disease often takes a team of different health specialists. They can suggest treatments that fit your personal needs. Because Fabry disease can affect people in many ways, different doctors may use a variety of methods to track symptoms and help manage the condition.¹

Actor portrayal photo doctor with patient

Which types of doctors manage Fabry disease?

Fabry disease can affect different organs in the body, including the kidneys, heart, brain, nerves, skin, and eyes.¹ It can also affect your mood, quality of life, and mental health. Different types of doctors can help address each of these issues, and together they form a multidisciplinary care team that can work with your primary care provider to guide your disease management plan.^1-4

Your fabry care team may include:

Audiologist (ears): hearing, balance, and ear problems
Cardiologist (heart): heart rhythm and function, and can treat more serious conditions such as heart failure
Counselor (mental health): depression, anxiety and other mental health challenges
Dermatologist (skin): skin-related symptoms such as angiokeratomas (small, dark red spots on the skin), or reduced ability to sweat
Gastroenterologists (digestive organs): issues like nausea and abdominal pain
Nephrologist (kidneys): kidney function and guide dialysis or transplant recommendations
Neurologist (brain and nerves): nerve pain such as burning in the hands and feet, and can evaluate more serious conditions such as stroke
Ophthalmologist (eyes): changes to the eyes
Physical therapist (rehabilitation): mobility and pain
Psychiatrist & Psychologist (mental health): depression, anxiety and other mental health challenges

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If you want to connect with us for help communicating with your broader care team, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM ET.

Call 1-800-745-4447 or email info@CareConnectPSS.com to reach a Case Manager who will then connect you with your Patient Education Liaison (PEL).

How are Fabry disease symptoms managed?

Fabry disease can lead to a wide range of symptoms that impact different organs and tissues in the body. It's important to note that symptoms vary from person to person.¹ Since Fabry disease is progressive, symptoms may change or get worse over time—especially if left untreated.^3,5

Starting treatment early can improve outcomes for people with Fabry disease.⁵ It is important to talk to the doctors on your care team about what therapies are available to help manage your Fabry disease symptoms.

Managing Fabry disease symptoms may involve different types of supportive care:¹

Gastrointestinal: relieves symptoms like nausea, diarrhea, and vomiting
Heart: manages blood pressure, arrhythmias, or heart failure
Kidney: lowers protein in the urine and protecting the kidneys
Mental health: psychological counseling and patient support
Neurological: addresses dizziness, hearing loss, and reducing stroke risk
Pain management: interventions to reduce pain, including neuropathic pain

The importance of pain management in Fabry disease

Pain is a common symptom of Fabry disease and is often one of the first signs people notice. Pain can affect people with Fabry disease in different ways. Most people describe a burning or tingling sensation in their hands or feet, known as neuropathic, or nerve, pain. Some may have a sudden episode of severe pain, called a "pain crisis," which can resolve quickly or last for hours or even days.

Doctors believe that pain in Fabry disease may result from nerve cell damage. Sometimes pain occurs for no clear reason, but many patients notice certain triggers that can bring it on or make it worse.⁶

Some common triggers include:

Physical exercise
Extreme temperatures (hot or cold)
Illness or fever
Emotional stress

A plan for dealing with pain

Managing pain with Fabry disease usually requires a mix of approaches. Avoiding triggers that can cause flare-ups and reducing daily stress are important. For people who experience pain from hot temperatures, clothing that promotes cooling (cooling vests, hats, lightweight shirts and pants, etc.), drinking plenty of water, and adjusting the time of day you do certain activities can help.⁶

Some patients experience chronic pain related to Fabry disease. Your care team may recommend certain medications to treat chronic pain, or alternative methods like acupuncture. Keeping a diary to track your pain severity and triggers can help your care team monitor what you are experiencing and adjust their treatment approach if needed.^6,7

Mental health management in Fabry disease

It is common for people with Fabry disease to experience mental health challenges like depression or anxiety. The fatigue and stress of living with a rare disease can contribute to this burden. Fabry disease can limit social activities, make it difficult to concentrate at school or work, and disrupt sleep—all which can lead to lower quality of life—especially for people who haven’t received an accurate diagnosis or have been experiencing unexplained symptoms for years.²

Screening and early support are important since improved mental health has been shown to correlate with improved Fabry disease symptoms in some people.⁸ Additional support and resources touching on mental health management with Fabry disease are available.

Talk to your primary doctor about your extended care team

Be sure to talk to your doctor about how your multidisciplinary care team is treating you. It can help ensure you are seeing the right healthcare providers for managing any pain you may be experiencing.

How is Fabry disease monitored?

If you have Fabry disease, your doctors may want to check in regularly to monitor your health. Since Fabry disease is progressive, meaning it can get worse over time,³ it is important to track your health carefully and let your doctors know about any new or worsening symptoms.

Monitoring tips for patients and caregivers:

Keep a diary of the timing and intensity of your symptoms, note when new symptoms or changes occur
Keep a list of the names of your multidisciplinary care team doctors, test results, and current medications and bring it with you to your appointments
Talk to your family about getting tested since other family members may benefit from early monitoring⁵

Health tracking tools for Fabry disease

Multiple specialized doctors can play a role in Fabry disease monitoring, each with their own type of tests for tracking different areas of the disease. Tools like a schedule of assessments can help you keep track of your disease monitoring over time.

Assessments for Fabry disease may include:

Blood tests: Lyso-GL-3, lipid panel, kidney function tests
Clinical: brain scans, cardiac monitoring, lung function test
General: height, weight, BMI
Health questionnaires and surveys: quality of life, pain evaluation
Urine: protein tests

Depending on your personal medical needs, your multidisciplinary care team will decide which tests you need and how often you have them.

Learn about support options available for managing Fabry disease

If you want to understand what other support options there are for managing Fabry disease, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM ET.

Call 1-800-745-4447 (for English, press 3; para español, oprima 7) or email info@CareConnectPSS.com.

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References

¹ Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis; 2006.

² Arends M, Hollak CE, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis. Jun 16 2015;10:77. doi:10.1186/s13023-015-0296-8

⁴ Genetic Testing in the US. National Fabry Disease Foundation. Accessed August 19, 2025. https://www.fabrydisease.org/images/ReferencePDFs/Genetic-Testing-10.pdf.

⁵ van der Veen SJ, Korver S, Hirsch A, et al. Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. Mol Genet Metab. Feb 2022;135(2):163-169. doi:10.1016/j.ymgme.2021.12.004

⁶ Politei JM, Bouhassira D, Germain DP, et al. Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. CNS Neurosci Ther. Jul 2016;22(7):568-76. doi:10.1111/cns.12542

⁷ Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM. Use of complementary and alternative medicine by patients with lysosomal storage diseases. Genet Med. Oct 2009;11(10):722-7. doi:10.1097/GIM.0b013e3181b182c3

⁸ Ali N, Gillespie S, Laney D. Treatment of Depression in Adults with Fabry Disease. JIMD Rep. 2018;38:13-21. doi:10.1007/8904_2017_21

Sanofi does not provide medical advice, diagnosis, or treatment. The health information contained herein is provided for general educational purposes only. Your healthcare professional is the best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

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