Fabry disease is a rare genetic condition in which you don’t produce enough healthy versions of an enzyme called alpha-galactosidase A (alpha-GAL). This enzyme breaks down sphingolipids, a fat-like substance, and prevents them from collecting in your blood vessels and tissues. Fabry disease is a type of lysosomal storage disorder.
Without functioning alpha-GAL enzymes, harmful levels of sphingolipids build up in your blood vessels and tissues. Fabry disease affects your heart, kidneys, brain, central nervous system and skin.
Other names for the condition are Anderson-Fabry disease, Fabry’s disease and alpha-galactosidase-A deficiency.
What are the symptoms of Fabry disease?
Fabry disease symptoms vary depending on the type. Some symptoms are mild and might not appear until later in life. Men and people AMAB tend to have more severe Fabry disease symptoms than women and people AFAB. Fabry disease symptoms include:
Numbness, tingling, burning or pain in your hands or feet.
Extreme pain during physical activity.
Heat or cold intolerance.
Abnormal pattern of the eye (cornea verticillata), which doesn’t affect vision and can only be seen during an eye exam with a slit lamp.
A genetic mutation of the galactosidase alpha (GLA) gene causes Fabry disease. The GLA gene produces the alpha-GAL enzyme that helps break down fatty substances (sphingolipids). People who inherit a defective GLA gene don’t produce enough alpha-GAL enzyme. As a result, fatty substances build up in their blood vessels.
What are the complications of Fabry disease?
Years of buildup of the fatty substance can damage blood vessels and lead to life-threatening issues, including:
There isn’t a cure for Fabry disease. Medications for pain and stomach problems can ease symptoms. There are two Fabry disease treatments that may slow down the buildup of the fatty substances with the goal to prevent heart problems, kidney disease and other life-threatening complications:
Enzyme replacement therapy: Every two weeks, you’ll receive an intravenous (IV) infusion of a lab-made enzyme that’s very similar to the alpha-GAL enzyme your body is lacking. The enzyme replacement treatments that are currently available are agalsidase beta (Fabrazyme®) and pegunigalsidase alfa (Elfabrio®). These replacement enzymes do the work of the missing alpha-GAL enzyme so fatty substances don’t build up. You may receive an antihistamine and other medications before therapy to prevent an allergic reaction. You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home.
Oral chaperone therapy: Chaperones are small molecules that repair faulty alpha-GAL enzymes. The mended enzymes can then break down the fatty substance. With this therapy, you take a pill (migalastat [Galafold®]) every other day to stabilize the faulty alpha-GAL enzyme. This medication doesn’t work for everyone. It depends on your specific genetic mutation in the GLA gene if you’re eligible for this treatment.
Researchers are actively developing several new therapies using genetic engineering and stem cell technologies.
How is it diagnosed?
Your healthcare provider may order tests to diagnose Fabry disease, including:
Enzyme assay: This test measures alpha-GAL enzyme activity in your blood. Measurements of 1% or lower indicate disease. This test is only reliable for men and people AMAB and not suited for women and people AFAB.
Genetic: Because men and people AFAB with Fabry disease can have normal levels of alpha-GAL enzyme activity, providers use genetic testing (DNA sequencing) to identify the GLA gene mutation.
Newborn screenings: Some states test newborns for Fabry disease and other lysosomal storage disorders.0
Your Family, Our Responsibility !