Fabry Disease Health Article

Diagnosis

Initially, the diagnosis of Fabry disease is based on the presence of the symptoms. It should also be suspected if there is a family history of the disorder. The diagnosis of Fabry disease is definitively made by measuring the activity of the alpha-galactosidase enzyme. When the activity is very low, it is diagnostic of Fabry disease. This enzyme analysis can be performed through a blood test. Measuring the activity of the enzyme can also detect if female carrier. Women who are carriers of Fabry disease have enzyme activity that is lower than normal.

Prenatal diagnosis is possible by measuring the alpha-galactosidase A activity in fetal tissue drawn by amniocentesis or chorionic villus sampling (CVS). Fetuses should be tested if the mother is a carrier. A woman is at risk of being a carrier if she has a son with Fabry disease or someone in her family has Fabry disease.

Treatment and management

There is currently no cure for Fabry disease. However, there are clinical trials underway in which individuals with Fabry disease are being given the alpha-galactosidase A enzyme as a form of enzyme replacement therapy. If successful, this enzyme replacement therapy may reduce or eliminate the symptoms associated with Fabry disease.

Until the enzyme replacement therapy is proven to be safe and effective, individuals with Fabry disease must rely on traditional treatments. Individuals with Fabry disease are recommended to have routine evaluations of the their heart and kidneys. Some individuals with kidney disease require a special diet that is low in sodium and protein. Dialysis and kidney transplantation may be necessary for patients with severe kidney disease. Certain medications may reduce the risk of stroke. Finally, individuals with Fabry disease are recommended to avoid the situations that cause the pain in their hands and feet to grow worse. In some situations medication may be required to reduce the pain.

Prognosis

The prognosis for individuals with Fabry disease is good, especially with the arrival of enzyme replacement therapy. Currently, affected individuals survive into adulthood with the symptoms increasing over time.

BOOKS

Desnick, Robert J., Yiannis Ioannou, and Christine Eng. Galactosidase A Deficiency: Fabry Disease." In The Molecular Bases of Inherited Disease. 8th ed. New York: McGraw Hill, 2001.

ORGANIZATIONS

Alliance of Genetic Support Groups. 4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008. (202) 966-5557. Fax: (202) 966-8553. <http://www.geneticalliance.org>.

Department of Human Genetics, International Center for Fabry Disease. Box 1497, Fifth Ave. at 100th St., New York, NY 10029. (866) 322-7963. <http://www.mssm.edu/genetics/fabry>.

Fabry Support and Information Group. PO Box 510, 108 NE 2nd St., Suite C, Concordia, MO 64020. (660) 463-1355. <http://www.cpgnet.com/fsig.nsf>.

National Institute of Neurological Disorders and Stroke. 31 Center Drive, MSC 2540, Bldg. 31, Room 8806, Bethesda, MD 20814. (301) 496-5751 or (800) 352-9424. <http://www.ninds.nih.gov>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

Fabry Disease Home Page. <http://www.sci.ccny.cuny.edu/~fabry/>.

Online Mendelian Inheritance in Man(OMIM). <http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?301500>.

Holly Ann Ishmael, MS, CGC