What Is Fabry Disease?
Fabry disease, also called Anderson-Fabry disease, is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This enzyme breaks down a fatty substance called globotriaosylceramide (Gb3 or GL-3). When Gb3 accumulates within cells throughout the body, it leads to progressive involvement and dysfunction of many body systems.
People of all genders can be affected by Fabry disease. Symptoms may begin in childhood or adolescence, or later in adulthood. Symptoms may vary in severity and include:
- Pain or burning sensations in the hands and feet, especially during exercise, stress, fever, or hot weather.
- Decreased sweating, which can make it hard to tolerate heat.
- Dark red or purple skin spots, often on the lower body.
- Stomach or digestive problems, such as pain, diarrhea, or nausea.
- Fatigue.
- Hearing issues or ringing in the ears.
Fabry disease can also affect important organs such as the heart, kidneys, and brain, causing protein in the urine, reduced kidney function, heart failure, arrhythmias, or stroke.
Living With Fabry Disease
Although there is no cure, treatments can help manage symptoms and slow disease progression. These may include:
- Enzyme replacement therapy or other targeted treatments.
- Regular check-ups to monitor the heart, kidneys, and nervous system.
With appropriate medical care, many individuals with Fabry disease can maintain a good quality of life. Management is typically coordinated through a multidisciplinary care team that often includes specialists in genetics, cardiology, nephrology, neurology, and pain management. Ongoing follow-up and individualized treatment planning are essential.