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 is the treatment for Fabry disease; is there a cure?
Fabry disease may be treated using enzyme replacement therapy with agalsidase-alpha (Replagal) or agalsidase beta (Fabrazyme) to help normalize kidney function, heart function, and blood supply to the brain.
Learn more about: Fabrazyme
Other treatments for Fabry disease are aimed at relieving individual symptoms.
- phenytoin (Dilantin), carbamazepine (Tegretol), or gabapentin (Neurontin) may help prevent episodes of pain and burning sensations (acroparesthesias). Opioids may be prescribed for severe pain.
- Antiplatelet drugs such as aspirin, ticlopidine, clopidogrel (Plavix), and aspirin-dipyridamole (Aggrenox) are prescribed to prevent recurrent ischemic strokes.
- Warfarin (Coumadin) may be prescribed to prevent cardioembolic strokes.
- In severe Fabry disease that has progressed to kidney failure, hemodialysis and kidney transplantation may be necessary.
- Pancrelipase (Ultrase), metoclopramide (Reglan), H2 blockers, such as ranitidine (Zantac), cimetidine (Tagamet), famotidine (Pepcid), and others, and loperamide (Immodium) can help and soothe relieve gastrointestinal symptoms.
- ACE inhibitors and/or blockers are prescribed for high levels of protein in the urine (proteinuria) due to kidney damage.
- Hearing loss may be treated with hearing aids.
- Patients with high blood pressure (hypertension) may be prescribed antihypertensive medications and they should keep blood pressure under control.
- High cholesterol should also be treated.
- In addition to medications, patients should eat a balanced diet, exercise, and avoid smoking.
What is the life expectancy for a person with Fabry disease?
The life expectancy of males with Fabry disease is about 58 years, and the life expectancy of females with Fabry disease is just over 75 years. The most common cause of death in both genders is cardiovascular disease.
Other names for Fabry disease
Fabry disease is referred to by many other names, for example:
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Angiokeratoma diffuse
- Ceramide trihexosidase deficiency
- Fabry's disease
- GLA deficiency
- Hereditary dystopic lipidosis
Desnick, MD, PhD. et al. "Genetics of Fabry Disease Treatment & Management." Medscape. Updated FEb 24, 2016.
Fabry Support & Information Group (FSIG). "What is Fabry Disease."
National Organization for Rare Disorders. (2015). "Fabry Disease."
U.S. National Library of Medicine Genetics Home Reference. (2016, June 21). "Fabry disease." Updated Jun 28, 2016.
Waldek, S. P., et al. "Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry." Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb
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