Fabry disease is a rare genetic condition whose hallmark is patients not having enough alpha-galactosidase A enzyme in their body.
This leads to a buildup of a substance known as globotriaosylceramide (Gb3 or GL-3) inside cells. The accumulation can damage the heart, kidneys, brain, nerves, hearing, and digestive tract.
Although there is no cure for Fabry disease, a number of treatments can prevent as much organ damage and improve patients’ quality of life.
Enzyme replacement therapy
Enzyme replacement therapy restores levels of the deficient alpha-galactosidase A enzyme. Two enzyme replacement therapies are available – Replagal (agalsidase alfa, developed by Shire) and Fabrazyme (agalsidase beta, developed by Sanofi-Genzyme). Both are given as an infusion directly into the bloodstream, usually every two weeks.
By normalizing levels of Gb3, enzyme replacement improves the functioning of several organs affected by Fabry disease.
Patients can experience side effects while taking the therapy. They typically begin after three to five infusions and taper off over time. The side effects can be eliminated by adjusting the dose, temporarily stopping the infusion, or taking a preventive medication. But rarely is there a need to stop replacement therapy completely.
While both Replagal and Fabrazyme are approved for use in the European Union, only Fabrazyme is approved by the U.S. Food and Drug Administration (FDA).
Kidney disease treatments
People with Fabry disease often develop chronic kidney disease. This is usually managed with medications such as angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs). In the event of kidney failure, patients may need dialysis or a kidney transplant.
Heart disease treatments
Fabry disease patients usually need medications to manage congestive heart failure and problems with heart rhythm (arrhythmias). A person with an advanced disease may need a heart transplant.
Managing the risk of stroke
Blood thinners such as antiplatelet agents or anticoagulants may be prescribed to Fabry disease patients at risk of stroke.
Treatment of hearing problems
Fabry patients who develop hearing loss may need hearing aids.
They may also need anti-nausea medications to deal with the nausea that can occur with vertigo, a sensation of spinning related to inner ear damage.
Treatment of gastrointestinal symptoms
Fabry disease patients often experience a range of gastrointestinal symptoms, such as nausea, vomiting, and feeling full faster. All can be treated with a combination of medications and diet changes, such as changing the amount, timing, and types of foods consumed.
Treatment of skin problems
Laser treatments can be used to deal with the small, red-purple spots called angiokeratomas that many Fabry disease patients develop.
Treatment of pain
Pain arising from nerve damage can be managed with lifestyle modifications such as avoiding excessive heat, treating fevers and infections quickly, staying hydrated, and removing shoes and socks during an attack. Medications such as carbamazepine, gabapentin, and phenytoin are often used to help keep pain under control.
Treatments under investigation
Scientists are looking at a number of new treatments for Fabry disease, including substrate reduction therapy, chaperone therapy, and gene therapy.
Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.