Part of the reason why Fabry disease affects people differently is because the disease is not caused by one single genetic mutation, or variant, in the GLA gene. In fact, there are many variants that can cause Fabry disease.
Different variants lead to different levels of alpha-Gal A enzyme activity, which is the amount of working enzymes your body can use. People with low alpha-Gal A enzyme activity usually have more severe symptoms.
In Fabry disease, two individuals can have the same variant, but may have different symptoms and health issues. Even members of the same family can have the same variant with different effects.
This type of Fabry can cause many severe symptoms beginning in early childhood and can lead to serious organ damage.
Symptoms can present during childhood or later in life and range in severity from mild to severe.
People with this type (both male and female) have some alpha-Gal A enzyme activity and may not experience symptoms until they are adults.
Certain variants may lead to late-onset Fabry affecting primarily the heart (cardiac) or the kidneys (renal).
Variants of uncertain significance either lack enough evidence or have conflicting evidence of their ability to cause Fabry disease. A person with a variant of uncertain significance may or may not experience Fabry disease symptoms.
Although Fabry disease presentation is highly variable, it is often progressive, meaning that the disease tends to get worse over time. Your healthcare provider may want to pay close attention to specific parts of your body that your Fabry disease affects the most, and order necessary tests.
Next Up: Laboratory testing for Fabry disease
Before taking Galafold® (migalastat), tell your healthcare provider about all of your medical conditions, including if you:
Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.
What are the possible side effects of Galafold?
The most common side effects of Galafold include headache, stuffy or runny nose and sore throat, urinary tract infection, nausea, and fever.
These are not all the possible side effects of Galafold. Call your healthcare provider for medical advice about side effects.
What is Galafold?
Galafold is a prescription medicine used to treat adults with Fabry disease who have a certain genetic change (variant) in the galactosidase alpha gene (GLA) that is responsive (amenable) to Galafold.
It is not known if Galafold is safe and effective in children.
You may report side effects to FDA at 1-800-FDA-1088. You may also report side effects to Amicus Therapeutics at 1-877-4AMICUS.
Please click here for Full Prescribing Information, including Patient Information and Instructions for Use.