Fabry disease is a genetic condition caused by a mutation in the GLA gene. This gene carries the information necessary for the production of alpha-galactosidase A enzyme. The mutation can cause no enzyme to be produced, or the enzyme to function only partially. The result is the buildup of a fatty substance called globotriaosylceramide (Gb3 or GL-3), which the enzyme is responsible for breaking down. Eventually, this buildup goes beyond the ability of the cell to handle it and causes damage throughout the body.

The disease affects the whole body and causes chronic and intense episodes of pain in the hands and feet, a red-spotted skin rash, and a progressive loss of vision, hearing, and kidney function. It also is associated with an increased risk of life-threatening heart attacks and strokes.

First appearing in childhood, Fabry disease can cause problems at home, school, work, and everyday life.

The disease is progressive, worsening over time, but people with Fabry disease can live full and productive lives if their symptoms are managed.

Medical treatment of Fabry disease

There is no cure for Fabry disease, but there are a number of treatments that can improve the symptoms. These include medications for kidney disease, heart disease, pain, and stomach problems.

In case of late-stage kidney disease, dialysis and kidney transplantation also are possible options.

Enzyme replacement therapy (ERT) can be used to treat Fabry disease. It consists of providing the patient with a functional version of alpha-galactosidase A. ERT can greatly improve the quality of life of patients with Fabry disease.

There are a number of experimental approaches in development that one day could treat or perhaps cure Fabry disease.


Fabry disease is a condition that can be very stressful and wear down patients’ physical and mental health. Keeping up with medical treatments can help a great deal to alleviate pain and other symptoms. They also can help patients participate more in everyday activities,and have a better quality of life.

Restricted diets can help with the symptoms of Fabry disease. A diet low in sugar, sodium, and fat, such as the DASH diet, can reduce the risks of heart disease and stroke and can help improve kidney health. Eating a well-balanced diet also can lead to better health overall, which should, in turn, reduce the symptoms of Fabry disease and prevent other problems such as illness or injury.

Drinking plenty of fluids, avoiding becoming overheated or overexerted, and taking frequent naps or breaks, can help reduce pain episodes, as well as other symptoms of the disease.

A support network of friends and family can go a long way in improving quality of life. Raising awareness about Fabry disease means they will be able to help patients if severe episodes of pain, heart attack, or stroke arise. It also will help them to be more understanding about disease-related absences from work, school, or social events.

