Treating Fabry disease: drugs, enzymes and lifestyle and diet changes

There is currently no causal treatment for Fabry disease. Symptomatic treatment of the disorder, replacement therapy for the missing enzyme and lifestyle modification are used.

Symptomatic treatment

To manage acroparesthesia and pain, patients are given antiepileptics and analgesics. For severe pain, opioids can also be used, but in low doses and for short periods of time.

Renal failure can be delayed by taking nephroprotective drugs such as ACE inhibitors. After renal failure, only dialysis or kidney transplantation is an option.

In heart failure, regimen measures are important. Among medications, antiarrhythmics or pacemaker implantation are beneficial in arrhythmias, fibrillation and extrasystoles.

In the most severe cases, heart transplantation is possible.

Digestion can be improved by modifying the diet, for example by eating small portions of non-greasy, non-irritating foods. We can also help by taking digestive enzymes or drugs to reduce stomach acid.

Angiokeratomas on the skin are primarily an aesthetic problem. They can be treated with laser or liquid nitrogen cauterisation.

Enzyme replacement therapy (ERT)

Two enzyme preparations are currently available to replace the missing alpha-galactosidase.

The first is the enzyme alpha-galactosidase - Replagal. It is produced using human cells (fibroblasts). It is given by injection at fortnightly intervals.

The second enzyme available is agalsidase beta - Fabrazyme. It is a recombinant form of alpha-galactose A. It is produced by a modern recombinant DNA method. It is also injected every two weeks.

After ingestion, the enzyme enters the lysosomes of the cells, where the site of action of the natural form of alpha-galactosidase is also located.

The treatment is very effective. It has been shown to reduce the deposition of glycosphingolipids in the tissues. Patients experience relief from pain, paresthesias, improved heat tolerance, improved sweating, and reduced swelling and dizziness.

But the most important thing is to stop the loss of kidney function and preserve the proper function of the heart.

Replacement therapy should be started as soon as possible after the diagnosis of the disease, preferably immediately.

Lifestyle in Fabry disease

Many of the symptoms of Fabry disease can be alleviated by lifestyle changes and dietary modifications.

For example, reducing protein and salt in the diet saves the already overworked kidneys.

Physical activity and being in warmer environments is particularly challenging for patients, as they cannot sweat like healthy individuals. The most important thing in this case is a regular supply of fluids to keep the body cool and also to avoid dehydration.

Last but not least, one should not forget to support the psyche with regular visits to a psychologist, support from loved ones and family.