Fabry Disease: Causes and Symptoms

What is Fabry disease?

Fabry disease is a genetic condition in which the body creates too little of the alpha-galactosidase enzyme. This enzyme’s job is to break down globotriaosylceramide (GL-3, or a type of fatty lipid, or building block of fat, in the body that helps cells and the immune system work properly). In people with Fabry disease, there is too little or no alpha-galactosidase enzyme. This causes the GL-3 to build up in certain parts of the body, such as the brain, kidneys or heart.

What are the symptoms of Fabry disease?

Pain

• Nerve pain
• Burning and/or tingling limbs
• Temperature sensitivity

Kidney problems

• Poor kidney function
• Kidney failure

Skin changes

• Angiokeratomas (red spots on skin)
• Abnormal sweating

Gastrointestinal problems (problems with the digestive tract, stomach or intestines)

• Constipation
• Diarrhea
• Nausea
• Abdominal (belly area) pain

Eye/ear problems

• Tinnitus (ringing in the ear)
• Vertigo (dizzy spells)
• Changes to the cornea (the clear, protective outer layer of the eye)

Neurologic (brain) problems

• Dizziness
• Strokes
• White matter lesions (spots on the white matter in the brain, or areas of the brain that help send and receive signals from the nerves and different parts of the body)

Heart problems

• Difference of the heart rhythm (arrythmia)
• Enlarged heart muscle (cardiomyopathy)

What causes Fabry disease?

Fabry disease is caused by changes in the GLA gene. The genes in our bodies are the instructions that tell our bodies how to develop and function. The job of the GLA gene is to create the alpha-galactosidase A enzyme. People with certain misspellings in the GLA gene create too little or no alpha-galactosidase A enzyme.

The GLA gene is on the X-chromosome (one of 2 sex chromosomes, or pieces of genetic material called DNA in the body). It is passed down in an x-linked inheritance pattern (genetic conditions or traits that are passed down through the X chromosome).

Rev. 3/2022. Reviewed by the MGfC Family Advisory Council. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.