These compounds pile up in lysosomeswhich are present in cells and all organsover time and cause harm.
It is passed down through the X chromosome.
The disease was first reported in 1898 by Drs.
Verywell / JR Bee
However, individuals with Fabry disease may not develop all of these symptoms.
Reproduced with permission from A DermNet New Zealandwww.dermnetnz.org2023.
Later manifestations may involve the nervous system, a reduced ability to sweat, the heart, and kidneys.
Reproduced with permission from © DermNet New Zealandwww.dermnetnz.org2023.
Fabry disease can also cause a problem in the nervous system known asdysautonomia.
They may also have problems with bone mineralization, including osteopenia orosteoporosis.
Back pain primarily in the area of the kidneys has been described.
Ringing of the ears, ortinnitus, and vertigo may occur in people with Fabry syndrome.
Mental illnesses, such as depression, anxiety, and chronic fatigue, are also common.
Causes
For people affected by Fabry disease, the problem begins in the lysosomes.
In Fabry disease, this enzyme is defective, so Fabry disease is also known as alpha-Gal A deficiency.
This enzyme normally breaks down a specific throw in of fat, or sphingolipid, called globotriaosylceramide.
In these cases, there are still damaging effects, often in the heart.
As such, the disease is sometimes discovered accidentally in someone who is being evaluated for unexplained heart problems.
Females have two X chromosomes while males have one X chromosome and one Y chromosome.
Clouding of the eyes cornea, swelling or edema, and abnormal heart findings may also be clues.
However, genetic testing is still advisable in all cases to determine as much information as possible.
To date, hundreds of different mutations in the alpha-Gal A gene have been found.
In these cases, pathologists would look for signs of glycosphingolipid deposition on the cellular level.
In some cases, other tissues may be biopsied, such as the skin or kidneys.
Although they have not been compared side-by-side in studies, they seem to work equally well.
These are intravenous drugs that must be infused every two weeks.
There is a test that determines whether or not a persons defective enzyme can be helped by Galafold.
Because Fabry disease is so rare, doctors may not think of it right away in routine practice.
National Organization for Rare Diseases.Fabry disease.
National Fabry Disease Foundation.The name Fabry disease.
An oligosymptomatic variant.Arch Pathol Lab Med.
1996;120(1):86-89.
National Center for Advancing Translational Sciences.Fabry disease.
National Fabry Disease Foundation.Fabry disease testing.
