Fabry's Disease (cont.)
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.
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.
In this Article
- Fabry disease definition and facts
- What is Fabry disease?
- What causes the disease; is it genetic?
- How do you inherit Fabry disease?
- What are the signs and symptoms of Fabry disease?
- What is the prevalence or incidence of Fabry disease?
- What types of testing diagnoses the disease?
- Which specialties of doctors treat Fabry disease?
- What is the treatment for Fabry disease; is there a cure?
- What is the life expectancy for a person with Fabry disease?
- Other names for Fabry disease
What are the signs and symptoms of Fabry disease?
Signs and symptoms include:
- Episodes of pain and burning sensations in the hands and feet (acroparesthesias) that can be triggered by exercise, stress, fatigue, fever, or changes in weather
- Small, dark red spots on the skin (angiokeratomas), mostly in clusters from the belly button to the knees
- Decreased ability to sweat
- Cloudiness of the front part of the eye
- Problems with the gastrointestinal system
- Ringing in the ears (tinnitus)
- Hearing loss
- Mitral valve prolapse
- Abdominal discomfort
- Frequent bowel movements after eating
- Joint pain
- Back pain in the kidney area
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.
What types of testing diagnoses the 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.
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.
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