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 of the eye
- 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 child's symptoms. A skin sample (biopsy) can be taken and examined under the microscope. Abnormal amounts of fat in the skin cells suggest Fabry disease.Treatment
Anticonvulsant medications such as Dilantin (phenytoin) and Tegretol (carbamazepine) 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) is an orphan drug approved for treatment of Fabry disease that replaces the deficient alpha-galactosidase A enzyme. Studies have shown that this enzyme replacement therapy significantly reduces pain and helps keep the kidneys and heart healthy. Fabrazyme treatment is more effective when started early in the disease process.
Sources:
"What is Fabry Disease." Fabry Support & Information Group. 12 Jan 2007.
"NINDS Fabry Disease Information Page." Disorders. 13 Feb 2008. National Institute for Neurological Disorders and Stroke. 7 Dec 2008.
