Fabry Disease

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Fabry Disease

Fabry disease is a rare disorder that over time can lead to life-threatening problems such as kidney failure, heart attack, and stroke. It is genetic, passed down from parents to children. With Fabry disease, the body has trouble producing an important enzyme (a type of protein) called alpha-galactosidase A, or alpha GAL. This enzyme is needed to break down substances, so they can be removed from cells and passed out of the body or recycled for other uses. Without alpha GAL, a substance known as globotriaosylceramide, or GB3, builds up in the cells, leading to issues with the kidneys, heart, and brain, among other things. If the disease gets worse and causes kidney failure, blood dialysis or a kidney transplant is needed.

There is no cure for Fabry disease. Treatment was limited to managing the symptoms until 2003, when a treatment called enzyme replacement therapy was approved in the United States. In 2018, an oral therapy was developed that helps some patients who have specific genetic mutations (permanent changes in the DNA). Treatments known as adjunctive therapies include treating nerve pain, gastrointestinal (GI) symptoms, and using medication to slow the progression of heart and kidney disease and help prevent stroke.

The UAB Fabry Clinic is nationally known for its expertise in Fabry disease. It was created to provide state-of-the-art care for this rare condition as we continue to learn more about it. The clinic takes a holistic approach to patient care, treating the whole person and using all available therapies. UAB also participates in clinical research trials focused on Fabry disease.

UAB Medicine’s kidney disease program is consistently ranked among the best in the country by U.S. News & World Report, and we are a recognized leader in kidney disease research and kidney transplants. Our expert nephrologists diagnose and treat a wide range of kidney disorders, using the latest methods, medications, and even genetic therapies in some cases. They work closely with other UAB specialists as needed to develop personalized care plans for each individual patient.

The research conducted at UAB – including studies on the genetic factors in kidney disease – helps us develop new ways to treat and prevent kidney problems. Because we lead or participate in many clinical research trials, patients may be offered cutting-edge therapies not yet available at other medical centers.