Our bodies contain a number of enzymes which break down compounds and make it easier to digest and remove certain particles from our systems. Some of these enzymes help us break down food, while others go after compounds our bodies deem foreign and remove them to prevent us from getting sick. One enzyme in particular, alpha galactosidase A (a gal a), breaks down a common compound that consists of three sugars and a fatty substance. If this fatty substance is not properly deconstructed, it will begin to accumulate. This is Fabry disease – where the body does not produce the correct level of the enzyme that breaks down this fatty substance and it begins to accumulate and pose a number of health risks for patients. It is also known as a “storage disorder” because of the accumulation of lipids in the body. Fabry disease is inherited from the parents and is known to affect one person in every 40,000.
Symptoms of Fabry Disease
Male and female patients exhibit symptoms of Fabry differently from one another. Symptoms exhibited by males begin in childhood with pain and burning sensations in the hands and feet. Some young males develop a dark red skin rash on the lower trunk and upper legs. As the patient begins to age, the symptoms can begin to affect the kidneys, heart and neurological system.
In female patients, a wide range of manifestations can be seen. Some of these symptoms are extremely mild or nonexistent and cause no complications at all. Other patients experience problems as severe as their male counterparts. The most common symptom, seen in almost 70 percent of patients, is corneal dystrophy. This variability is most likely caused by random inactivation of the inherited gene that travels on the X-chromosome.
How Can Fabry Be Treated?
The pain and burning sensation experienced in young patients can be treated with a few different prescription medications. Other medications can aid the body in the breakdown of the fatty deposits and ease gastrointestinal hyperactivity. Enzyme replacement therapy is being researched and tested as a way to reduce lipid storage, ease the pain associated with Fabry and improve organ function. While patients are at a higher risk of strokes, heart attacks and heart disease, they often reach full adulthood.
Sources:
http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm
http://www.medicinenet.com/fabrys_disease/article.htm
http://www.fabry.org/FSIG.nsf/Pages/Fabry
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