Fabry disease is a rare genetic lysosomal storage disorder, where you don’t have enough of a certain enzyme that breaks down fats. These fats collect in blood vessels and tissues, raising the risk of heart attack, stroke and kidney failure. Enzyme replacement and oral chaperone therapy can help prevent serious complications.
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.
The types of Fabry disease reflect the age when symptoms first appear. Types include:
Approximately 1 out of every 40,000 men and people assigned male at birth (AMAB) has classic Fabry disease. Late-onset or atypical Fabry disease is more common. It affects about 1 in every 1,500 to 4,000 men and people AMAB.
Experts aren’t sure how many women and people assigned female at birth (AFAB) have Fabry disease. Some women and people AFAB don’t have symptoms or have mild, easy-to-dismiss symptoms, so the condition frequently goes undiagnosed.
People with Fabry disease inherit a mutated gene on their X chromosome from a biological parent. Men and people AMAB inherit one X chromosome from their female parent. Women and people AFAB have two X chromosomes, one from each parent.
A parent can pass on the faulty gene that causes Fabry disease to a child in different ways:
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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:
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.
Years of buildup of the fatty substance can damage blood vessels and lead to life-threatening issues, including:
Your healthcare provider may order tests to diagnose Fabry disease, 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:
Researchers are actively developing several new therapies using genetic engineering and stem cell technologies.
Fabry disease is inherited. If you carry the mutated gene that causes Fabry disease, talk to a genetic counselor. This specialist can explain the chances of passing the gene to your children and discuss options. For instance, a process called preimplantation genetic diagnosis (PGD) identifies embryos that don’t carry the mutated gene. Your healthcare provider implants healthy embryos during in vitro fertilization (IVF). PGD ensures your child won’t have the mutated gene or get Fabry disease.
Fabry disease is a progressive disease. Symptoms and the risk of serious complications worsen with age. People with Fabry disease have a higher risk of life-threatening problems that can shorten life expectancy. On average, men and people AMAB with classic Fabry disease tend to live to their late 50s. Women and people AFAB with the disease often live into their 70s. You may add years to your life by getting appropriate care for heart and kidney disease and taking steps to reduce strokes.
You should call your healthcare provider if you have Fabry disease and experience:
You may want to ask your healthcare provider:
A note from Cleveland Clinic
A diagnosis of Fabry disease can be devastating. You may worry about your future or what this means for your child’s well-being, but effective treatments — and promising research — offer hope. By keeping up with your treatment plan and working closely with your healthcare provider, you can find symptom relief and prevent long-term damage. Talk to your provider about how to monitor the disease and manage your health.
Last reviewed by a Cleveland Clinic medical professional on 08/21/2023.
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