Fabry disease is a rare genetic disorder caused by the buildup of a fatty substance called globotriaosylceramide (GL-3) in the body’s cells. This accumulation leads to damage in blood vessels, nerves, and vital organs, increasing the risk of kidney failure, heart disease, and stroke. Since it is a progressive disease, early diagnosis and treatment are essential for slowing disease advancement and improving quality of life.
It is diagnosed through genetic testing and enzyme activity tests, which measure the function of the alpha-galactosidase A (GLA) enzyme responsible for breaking down GL-3.
Symptoms can vary depending on age and disease severity but commonly include:
- Burning or tingling pain in the hands and feet (neuropathic pain)
- Gastrointestinal issues, such as nausea, diarrhea, and abdominal discomfort
- Dark red spots on the skin (angiokeratomas)
- Hearing loss or ringing in the ears (tinnitus)
- Sweating abnormalities, including excessive or reduced sweating
- Kidney problems, which may progress to kidney failure if untreated
How Is Fabry Disease Treated?
Although there is no cure, specialized therapies can slow progression, reduce symptoms, and improve long-term outcomes.
Infusion Therapy for Fabry Disease
The most effective treatment for Fabry disease is enzyme replacement therapy (ERT), administered through IV infusions. ERT delivers synthetic enzymes that help break down GL-3, reducing buildup in tissues and slowing disease progression. Infusion therapy is an essential treatment option for managing and preventing severe complications.
Other Fabry Disease Treatment Options
- Chaperone Therapy – An oral medication that helps stabilize enzyme function in certain patients with specific genetic mutations.
- Supportive Care – Pain management, heart medications, and kidney treatments can help control symptoms and improve overall health.
Find Expert Infusion Therapy for Fabry Disease
Getting your infusions for enzyme replacement therapy (ERT) in a comfortable outpatient setting like Infusion Specialists ensures that you receive specialized IV treatment tailored to the treatment of the and to your needs. Our expert team collaborates with your healthcare provider to develop a personalized infusion care plan for long-term symptom management.