How you experience Fabry disease is unique to you
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.
genetic variants have been determined to 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.
Fabry disease presents along a spectrum
CLASSIC FABRY IN MALES
This type of Fabry can cause many severe symptoms beginning in early childhood and can lead to serious organ damage.
CLASSIC FABRY IN FEMALES
Symptoms can present during childhood or later in life and range in severity from mild to severe.
LATE-ONSET FABRY
People with this type (both male and female) have some alpha-Gal A enzyme activity and may not experience symptoms until they are adults.
LATE-ONSET, CARDIAC/RENAL
Certain variants may lead to late-onset Fabry affecting primarily the heart (cardiac) or the kidneys (renal).
UNCERTAIN SIGNIFICANCE
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.
Read The Many Faces of Fabry to understand how Fabry disease affects many parts of the body.