Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Since the gene that is altered is carried on a mother's X chromosomes her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.
Some women who carry the genetic mutation may have symptoms of the disease. Symptoms usually begin during childhood or adolescence and include:
Burning sensations in the hands that gets worse with exercise and hot weather, and
Small, raised reddish-purple blemishes on the skin.
Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved.
Other symptoms include: decreased sweating, fever, and gastrointestinal difficulties, particularly after eating.
Symptoms of Fabry's disease include a decreased ability to sweat and changes in the cornea or outer layer of the eye.
Some female carriers of Fabry's disease show mild signs of the disorder, especially cloudiness of the cornea.
The first symptoms of Fabry's disease in childhood are pain and discomfort in the hands and feet brought on by exercise, fever, stress, or changes in the weather.
Treatment focuses on prevention of symptoms and long-term complications.
Yes sure . Fabry disease doesn't prevent pregnancy but the disease might get linked to the baby . Proof of that : My mother has Fabry disease and linked it to me.
Although the disease begins in childhood, Fabry's disease progresses very slowly.
Approximately 1 in every 40,000 males is born with Fabry's disease.
Fabry Disease is a kind of sickness of the skin. It is not that easy to heal it. There might be several reasons why someone get a fabry disease and a lot of doctors try to heal it with different methods.
Enzyme replacement therapy to treat Fabry's disease is currently being explored.
Fabry's disease has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome.
Women who are carriers of the defective gene that causes Fabry's disease can also be identified by a blood test.
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