Definition – What is Fabry’s disease?
Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies. As a result, organs are damaged and a variety of symptoms can occur depending on the organ damage.
Causes
The cause of Fabry’s disease is a missing enzyme, α-galactosidase A. This enzyme occurs within the cells in certain compartments, the lysosomes, where it is needed for the cleavage of glycosphingolipids. Glycosphingolipids are a group of sugary fats which are needed for the construction of the cell.
Due to a genetic defect, this enzyme is missing, causing various metabolic products (especially globotraosylceramide) to accumulate within the cells and damage them. As a result, the cell dies and organ damage and functional disorders occur. This type of disease is called lysosomal storage disease, because the metabolites in the cell accumulate within the lysosomes.
This topic might be of interest to you: Storage diseases – Which ones are there? Fabry disease is inherited X-linked. Sons of sick fathers are healthy because they only get the Y-chromosome from their father, whereas daughters are always sick because they inherit the X-chromosome. Because sick men have only one X chromosome with the defective gene, the disease is much more severe in them than in women. Women also have a second X chromosome, which can partially compensate for the defect
Treatment
Early diagnosis is very important for the treatment of Fabry’s disease, because the earlier the symptoms are treated, the slower the disease progresses. There are certain centers that specialize in treating the symptoms of Fabry’s disease, which patients should definitely contact. Since Fabry disease is a multi-organ disease, treatment is carried out by a team of heart specialists, kidney specialists, renal specialists and other medical specialists.
In addition to alleviating the symptoms, the therapeutic approach has for some years now been aimed primarily at replacing the missing enzyme with an artificially produced α galactosidase. This enzyme replacement therapy results in the metabolites being broken down and not being deposited in the organs, thus improving the patients’ symptoms. If treatment is started early, damage to the organ systems can be prevented and patients can lead an almost normal life.
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