Fabry disease is a fat storage disorder caused by a deficiency of an enzyme, alpha-galactosidase A (also called ceramidetrihexosidase), involved in the breakdown of fats. Since fat doesn't break down properly, part of it (globotriaosylceramide, also called Gb3 or GL-3) accumulates in the blood, blood vessels, and organs of the body and causes damage.
Fabry disease may be hard to detect because several of its signs and symptoms overlap those present in other diseases and conditions. Patients do not typically have all of the symptoms associated with Fabry, while others may develop them at different times throughout their lives.
It is important that the doctor finds out whether there is a family history of Fabry disease whenever it is suspected.