Enzyme Replacement Therapy for Fabry Disease — What to Keep in Mind
Enzyme replacement therapy (ERT), such as Fabrazyme, addresses the primary cause of Fabry disease — mutations in the GLA gene that lead to the lack of alpha-galactosidase A enzyme, which is needed to break down a type of fat called globotriaosylceramide (Gb3 or GL-3).
A deficiency in naturally-occurring alpha-galactosidase A can cause Gb3 to build-up in cells and tissues of the body, leading to several symptoms including heart disease, kidney dysfunction, Fabry crises, and various skin and eye problems.
Here are a few things to keep in mind about ERT.
Start ERT early
Be prepared for long-term therapy
ERT is a lifelong treatment. Stopping it midway may result in the symptoms of the disease recurring.
A typical ERT session lasts a few hours and is administered intravenously, usually once every two weeks. Discuss with your doctor a mutually convenient time so that you are able to accommodate these sessions in your schedule.
A personalized treatment plan can help organize your therapy sessions and track outcomes.
Be aware of the outcomes
ERT is not a cure, but a treatment to help manage the symptoms of Fabry disease. Its outcome depends on multiple factors, which can vary for each individual such as age, sex, and the type of Fabry disease. Discuss with your doctor how beneficial ERT may be in your particular case.
Plan your finances
Although your health insurance may cover the majority of the expenses, ERT still may put a strain on your resources. Make sure you have adequate funds, keeping in mind the long-term nature of the treatment and any contingency needs that may arise during the course of the therapy.
Take supplementary measures as necessary
If you are experiencing kidney problems, you may need to take medications such as angiotensin-converting enzyme (ACE) inhibitors and angiotensin 2 receptor blockers alongside ERT. It also is a good idea to discuss with your doctor the possible future need for dialysis or a kidney transplant.
Keep a tab on allergies
ERT can sometimes cause allergic reactions as your body “thinks” that the enzyme is a foreign invader. This can be in the form of a rash, fever, hives, or in rare cases anaphylaxis, which can be life-threatening. Monitor yourself for such symptoms and inform your doctor immediately if you spot anything out of the ordinary.
Check your ‘CRIM’ status
Your cross-reactive immunological material (CRIM) status indicates how much natural alpha-galactosidase A activity you have. This an important factor in predicting the possible outcomes of ERT.
Those with CRIM-negative status have no natural alpha-galactosidase A enzyme activity. It is more likely that the bodies of these patients will mount an immune reaction against the newly introduced enzyme, leading to poor response to ERT. These patients will need to be treated with immuno-modulating medication before ERT.
CRIM-positive patients, however, have a little natural enzyme activity (at least 1%), which means their bodies already are accustomed to the enzyme and unlikely to mount an immune response against it. These patients are likely to respond better to ERT than CRIM-negative patients.
Last updated: Jan. 14, 2020
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