Fabry disease is inherited as an X-linked disorder, meaning that the defective gene is carried on the X (female) chromosome. This means that for a mother who carries the defective gene, each of her sons has a 50% chance of inheriting the disorder and each of her daughters has a 50% chance of being a carrier.
Symptoms
As Gb3 accumulates in the blood vessels, the vessels become narrower, reducing blood flow to tissues in the body. Symptoms of Fabry diseased usually begin during childhood or adolescence and include pain and burning sensations in the hands or feet that gets worse with exercise and hot weather. Additional symptoms may include:
- small, raised reddish-purple blemishes on the skin (angiokeratomas)
- cloudiness of the cornea
- decreased ability to perspire
- problems with the kidneys or heart due to decreased blood flow
- abdominal discomfort
- back pain.
Diagnosis
A diagnosis of Fabry disease is suggested by the symptoms the child or adolescent is having. A skin sample (biopsy) can be taken and examined under the microscope. Abnormal amounts of fat in the skin cells would suggest Fabry disease.
Treatment
Medication can be given to reduce the pain that Fabry disease causes. Other medications may be given to reduce the risk of heart attack or stroke. Fabrazyme (algalsidase beta) Replagal (algalsidase alpha) are orphan drugs for treatment of Fabry disease. They replace the deficient enzyme, which helps keep the kidneys and heart healthy.
Sources:
- "What is Fabry Disease." Fabry Support & Information Group. Fabry Support & Information Group. 12 Jan 2007 <http://www.fabry.org/FSIG.nsf/Pages/Fabry>.
- "Fabry's Disease Information Page." NINDS Disorders Information. 24 Jan 2006. National Institute for Neurological Disorders and Stroke. 12 Jan 2007 <http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm>.
