Written by Fabry disease is a rare, X-linked genetic disorder that causes a buildup of a fatty substance called globotriaosylceramide (GL-3) in the body’s cells. This buildup can damage blood vessels, organs, and tissues throughout the body.
Fabry disease is caused by a mutation in the GLA gene, which provides instructions for making the enzyme alpha-galactosidase A (α-Gal A). α-Gal A normally breaks down GL-3, but when the gene is mutated, the enzyme is either deficient or absent. This deficiency leads to a buildup of GL-3 in the body’s cells.
Fabry disease is most common in males, but it can also affect females. Females with Fabry disease typically have milder symptoms than males, but they can still be severe.
Symptoms of Fabry disease
The symptoms of Fabry disease can vary depending on the severity of the disease and the organs and tissues that are affected. However, some of the most common symptoms include:
- Burning pain in the hands and feet
- Clouding of the cornea
- Skin lesions
- Fatigue
- Shortness of breath
- Heart problems, such as cardiomyopathy and arrhythmias
- Kidney problems, such as protein in the urine and kidney failure
- Stroke
- Hearing loss
Diagnosis of Fabry disease
Fabry disease can be diagnosed with a blood test to measure the level of α-Gal A activity. If the α-Gal A level is low, a DNA test can be done to confirm the diagnosis.
Treatment of Fabry disease
There is no cure for Fabry disease, but there are treatments that can help to manage the symptoms and prevent complications. The main treatment for Fabry disease is enzyme replacement therapy (ERT), which involves receiving infusions of the missing enzyme, α-Gal A. ERT can help to reduce the buildup of GL-3 in the body and improve the function of affected organs and tissues.
Other treatments for Fabry disease include:
- Pain medication
- Medications to control blood pressure and cholesterol
- Medications to protect the kidneys
- Pacemakers and defibrillators to treat heart problems
- Kidney dialysis and transplantation for kidney failure
Prognosis for Fabry disease
The prognosis for Fabry disease varies depending on the severity of the disease and the organs and tissues that are affected. However, with early diagnosis and treatment, most people with Fabry disease can live long and productive lives.
If you are concerned that you or your child may have Fabry disease, talk to your doctor.