Fabry disease is a rare genetic disorder caused by the accumulation of globotriaosylceramide (Gb3). Man man that these adipose molecules accumulate inside the cells, damage them and cause their death. In the long run, they can cause chronic pain, kidney disease and stroke.

The primary cause of the accumulations is an anomaly inside the GLA gene, which carries the necessary instructions for the enzyme that processes the Gb3 molecules. When the enzyme is missing, the process stops and the symptoms of the disease appear. Depending on the type of mutation, the enzyme may be present in very small amounts or none at all. This results in greater and lesser severity of Fabry's disease.

The GLA gene is found on the X chromosome, which is why women are less affected by the disease: a healthy copy is enough to suppress the effects of the sick one. Men cannot rely on this mechanism and therefore get sick much more. If they show suspicious symptoms, it is better to use specific tests.

The first analyzes serve to assess the levels of the enzyme in the blood. If they are very low, genetic testing is used to look for GLA abnormalities. This in men. In women, blood tests are often normal: in the case of sick close relatives, the safest route is genetic testing. If successful, the prenatal test should also be considered. If one of the couple's members has close relatives with Fabry's disease, he may be a healthy carrier. In this case, there are two ways: the prenatal genetic test; in vitro fertilization with pre-implantation test.

Source: fabrydiseasenews.com