Fabry disease is a rare storage disease characterized by a partial or complete deficiency of the enzyme alpha-galactosidase A. As the quality of all cells throughout the body, especially the blood vessels are affected, it will cause damage to vital organs such as kidney, heart and brain. Fabry’s disease, is chronic as a heavy crane accident that led to untreated severe disabilities in everyday life and early death. Children are also affected. Cause of Fabry disease is a genetic deficiency of that enzyme. The body is not able to produce this enzyme. The enzyme plays an important role in the degradation of certain products from fat metabolism. Substances that the body breaks down quickly in healthy people accumulate gradually in patients with Fabry disease: The fatty substances, mainly globotriaosylceramide, will not split. Therefore, the formation of harmful deposits in cells and blood vessels, are leading to severe organ damage. This gene defect may therefore have different effects: the alpha-galactosidase is not synthesized or only in low concentrations or the alpha-galactosidase is present in an inactive or weakly active form.
Fabry disease is a disease whose symptoms can increase during the course of life to unbearable. Thus, the quality of life of those affected falling continuously. Initial symptoms are often in pain, beginning as an intense, burning pain in hands and feet and spread from there into other parts of the body. Other signs are strongly increased or decreased sweating, skin lesions as small red spots, especially in the area between the navel and knees, eye and kidney problems and fever. In the course may be to have decreased renal function to dialysis, heart enlargement, get a heart attack, heart rhythm disturbances, dizziness or stroke. The first symptoms of Morby Fabry usually occur on pre-school sound and usually after a period of a few days back. In addition to this pain, there is often an unpleasant sensation in the feet and hands, which is permanent and can be reinforced by external temperature changes. Since Fabry disease is an inherited disease, it is likely that other family members suffer from the above symptoms. However, not all necessarily is signs in each patient simultaneously.
The suspicion of Fabry disease can be determined by measuring the activity of alpha-galactosidase in blood or in the tear fluid confirmed or excluded. With appropriate therapy, it is possible the progress of the disease and the aggravation of the symptoms to stop. The symptoms can be treated symptomatically and occupied by the enzyme replacement therapy a possibility in which the missing enzyme can be replaced. For this, is genetically engineered with alpha-galactosidase available. With an infusion of the missing enzyme is administered so that the healthy metabolic cycle reestablished and the deposits are removed. A particular milestone is now the official approval of agalsidase alfa? Therapy for children, because the earlier the treatment, the more effectively can prevent health problems. Where children are treated early, they have great chances of a largely healthy life.