April is Fabry disease awareness month. Also known as Anderson-Fabry disease, this is a rare genetic disease characterized by the deficit of the protein alpha-galactosidase A, (a-Gal A) that causes a build-up of fat, globotriaosylceramide, in the body. This enzyme deficit disturbs the skin, eyes, kidneys, heart, brain and the gastrointestinal and nervous system. The symptoms varied from joint and back pain and burning sensations to skin colorations and hearing and vision loss. Fabry disease is considered one of the lysosomal storage diseases caused by a defect on the X chromosome.
This rare disease affects between 1 in 40,000 and 1 in 117,000 patients among the Caucasian populations. The Treatment includes enzyme replacement therapy along with medications to treat and prevent other symptoms of the disease, in severe cases kidney transplants may be needed due to renal failure. The life expectancy of males with Fabry disease is about 58 years, and the life expectancy of females with the disease is about 75 years.
At Medialis we are committed to bring awareness about this rare disease and support the Fabry patients and practitioners working towards a better quality of life. Knowledge is power, therefore understanding more about Fabry disease will ensure the development of faster and better treatments.