Diagnosis of Fabry Disease

Fabry disease is a genetic disorder caused by mutations in the GLA gene. This mutation leads to a deficiency in the enzyme alpha-galactosidase A, and causes the buildup of a fatty substance called globotriaosylceramide (Gb3 or GL-3) inside cells throughout the body. Over time, this buildup intensifies and can lead to a wide range of serious symptoms.

The disease is inherited as an X-linked pattern, which means that affected fathers will pass the disease to their daughters but not their sons, and affected mothers have a 50 percent chance of passing it to children of either sex. Although symptoms are milder in females and a few rare cases may be asymptomatic, women who carry the faulty gene can pass the disease, in a potentially severe form, to their children.


Fabry disease can resemble other diseases, but should be suspected if an individual has:

  • Episodes of extreme pain in the hands and feet.
  • Progressive kidney damage, otherwise unexplained.
  • Rash-like clusters of small, dark, red spots on the skin.
  • Eye problems, especially cloudy corneas that lead to vision loss.
  • Hearing problems, especially tinnitus or ringing in the ears that lead to hearing loss.
  • Unexplained and sudden strokes or heart problems.

If these symptoms are present, it is highly recommended that individuals undergo testing for Fabry disease. It should be noted that fevers often worsen the symptoms of Fabry disease.


A few tests can help diagnose Fabry disease:

  • A blood test can examine how well the alpha-galactosidase A enzyme works. This test is less effective in women than men, so other tests, such as a genetic test, usually are needed to confirm the disease in women.
  • Urine tests may show the presence of proteins in the urine (proteinuria), or increased levels of albumin (albuminuria). These could be signs of Fabry disease.
  • A test for lyso-Gb3, another fatty substance that accumulates as a result of alpha-galactosidase A deficiency, in the blood or in the urine also can detect the presence of the disease.

The most definitive test, however, is a genetic test looking for the mutant GLA gene. A full DNA sequence analysis can be used to diagnose both men and women who have symptoms, and even women who do not show any symptoms but carry the faulty gene.

Should family members be tested?

It is recommended that the close family members of patients with Fabry disease undergo genetic testing.

When a family member is diagnosed, it is possible to discover many undiagnosed cases of Fabry disease. A person’s knowledge of their disease status can help inform family planning decisions.

Testing family members genetically can help diagnose cases of Fabry disease early before serious problems arise. This allows treatment to begin sooner and may reduce symptoms, leading to better outcomes.


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.