Living with Fabry disease
Information, shared experiences and research connections for people living with Fabry disease and those who support them.
Understanding Fabry disease
It is caused by changes in the GLA gene and is passed down in an X-linked pattern; the classic form starts in childhood, while milder forms appear later and mainly affect the heart, kidneys or brain blood vessels.
Signs & symptoms
Signs can affect many parts of the body and vary from person to person.
- Pain or burning in the hands and feet
- Small dark red spots on the skin (angiokeratomas)
- Sweating less than usual
- Stomach pain and other digestive problems
- Ringing in the ears or hearing loss
- Clouding of the cornea of the eye
Tell your care team about new or changing symptoms.
Diagnosis
- 1Exam and history
Doctors look at your symptoms and your family's health history.
- 2Enzyme test
Lab tests can measure how well the alpha-galactosidase A enzyme is working.
- 3Genetic testing
Testing for changes in the GLA gene can help confirm the diagnosis.
Care & treatment
- Treatment
- Enzyme replacement therapy, and for some people with certain gene changes an oral medicine, can reduce fat buildup, ease pain and help protect organs.
- Supportive care
- Care may also include medicines for pain, digestion, blood pressure or stroke prevention, and some people need dialysis or a kidney transplant.
- Your team
- Care often involves several specialists, such as heart, kidney, nerve, skin and eye doctors and geneticists.
Discuss benefits, risks and follow-up with your care team.
Everyday life
Fabry disease can touch many body systems, so good records help.
- Track pain episodes, including when they happen and what seemed to set them off.
- Note digestive symptoms, sweating changes and hearing changes to share at visits.
- Keep kidney, heart and other test results together in one place.
You are more than your diagnosis
Perspectives from people navigating life with Fabry disease.
Explore research for Fabry disease
Explore actively recruiting Fabry disease studies with HealthSpark.
Find actively recruiting studies for Fabry disease with HealthSpark. Share your city to explore research near you.
- Phase 3 studies first, with nearest research center
- Study information from ClinicalTrials.gov
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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