Today we will focus on Fabry disease – a rare genetic disease resulting from a mutation of a gene (GLA) located on the X chromosome.
Like any part of the human body, the kidneys often suffer from various diseases. Some of them which arise spontaneously, are treated and subside quickly. Others are hereditary, appear quietly, inflict their damage, and when the patient feels them, it is already too late – the damage is irreparable – the kidneys do not function and it is necessary to start hemodialysis.
That is why it is important to know the family history – many of the kidney diseases are genetic and determine as the family burden in the family. In these cases, prevention and regular prophylaxis is of paramount importance – even if they cannot always be avoided, hereditary kidney diseases could be caught in time and successfully controlled.
The condition affects people of all ethnic and cultural backgrounds. It mostly affects men (1 in 40,000 men), but women can also be affected by Fabry disease. The reason for this is that women have two X chromosomes, and if one of them is defective, the other manages to somewhat compensate for the defect.
For men, however, this is impossible.
Their symptoms are observed already in the first 10 years of life. Boys complain of reduced physical ability. They get tired more easily and have a harder time tolerating cold and heat because the blood vessels are affected. If the mother observes her son, she will notice that in the group of playing children he gets tired the fastest and goes to rest, hides from the sun or the cold. These are the first things that make an impression on mothers, but sometimes they are interpreted as a whim. Then the pain appears in the limbs, most often the lower ones. There are also unexplained abdominal pains that last for hours or days. They are usually associated with a slight increase in temperature and then disappear spontaneously. Mothers do not always remember to talk about these symptoms because they do not attach much importance to them. Therefore, doctors who know the disease should purposefully ask about the symptoms. In case of doubt, a test is done – most often on urine. A small amount of protein may appear in it. One negative sample is not enough, several are made because the protein appears in periods.
As the symptoms progress, young men develop hypertension (high blood pressure) approx. 20 years of age. In the third-fourth decade, the first strokes appear. After that, more pronounced pains appear, the retina is colored in a specific way, viewed in polarized light. The intermediate products of the exchange due to the genetic defect (metabolites) are released like spokes on wheels. This can be determined by an ophthalmologist who has experience with such patients, however.
After 30 years, impaired kidney function is also established. It is leading in the clinical picture, therefore these patients are usually seen by nephrologists.
In women, the same symptoms occur, but with a 10-15 year delay.
Most visible to the human eye are changes in the skin. Specific rashes appear, which are located on the buttock and abdominal area around the navel and to the inguinal folds. They are so characteristic that if the doctor has seen them, he can diagnose another person on this basis alone. This rash does not hurt or itch, it has only a cosmetic effect. It can appear at the very beginning or later. It is not indicative of the severity of the disease, but if it is known, we can with almost 100% certainty go towards this diagnosis.
And in the next article we will pay attention on – Why Fabry disease should be detected and treated early?