Fabry Disease

  • Medical Author:
    John P. Cunha, DO, FACOEP

    John P. Cunha, DO, is a U.S. board-certified Emergency Medicine Physician. Dr. Cunha's educational background includes a BS in Biology from Rutgers, the State University of New Jersey, and a DO from the Kansas City University of Medicine and Biosciences in Kansas City, MO. He completed residency training in Emergency Medicine at Newark Beth Israel Medical Center in Newark, New Jersey.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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How is Fabry disease inherited?

Fabry disease is the result of what is called an X-linked inheritance, that is, the disease is caused by a defect on the X chromosome. X-linked genetic mutations tend to occur mostly in males and rarely in females.

If a mother is carrying the defective gene for Fabry disease, both male and female children have a 50% chance of inheriting it from their mother. If the father is carrying the Fabry gene, the female children will inherit the defective gene because the father passes along an X chromosome to them, but the male children, who get a Y chromosome, will not.

Females who inherit a defective X chromosome are called carriers and they may pass the genetic mutation on to their male children.

What is the prevalence or incidence of Fabry disease?

It is estimated that Fabry disease affects 1 in 40,000 males. The prevalence of Fabry disease in females is unknown. It can affect all ethnicities, but it predominantly affects Caucasians. Late-onset forms of Fabry disease, which tend to be milder, are more common than the classic severe form diagnosed earlier in life.

Which specialties of doctors treat Fabry disease?

Because Fabry disease can affect many different organs many specialists may be consulted:

  • Nephrologist for kidney problems
  • Cardiologist for heart problems
  • Neurologist or neurosurgeon for brain and nervous system symptoms
  • Ophthalmologist for eye problems
  • Gastroenterologist for digestive problems
  • Otolaryngologist (ear, nose, and throat specialist, or ENT) for hearing problems
  • Additionally, patients may benefit from working with physical therapists, nutritionists, and psychologists to help manage symptoms.
  • Patients may also wish to consult with genetic counselors.

Is there a test to diagnose Fabry disease?

Fabry disease can be difficult to diagnose because it is so rare. The standard test to diagnose Fabry disease is a measurement of leukocyte alpha-Gal A enzyme activity. This test can detect the presence of the mutation for Fabry disease in males, however, it will only identify about 50% of the female carriers.

Medically Reviewed by a Doctor on 6/30/2016

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