A cell is made up of 23 pairs of chromosomes. These chromosomes carry in a structure called DNA all the genetic information that identifies a person, such as sex. In the case of women, the chromosomal pair that determines sex contains two X chromosomes and in the case of men, one X chromosome and another Y chromosome.
Fabry disease is a condition linked to this X chromosome, which means that the defective gene that generates or does not eliminate the toxic substance that causes the disease, alpha-GAL, is found on this X chromosome.
Is Fabry Disease Inherited From Family?
Fabry disease, therefore, by being part of the genes, is transmitted from father to son, that is, it can be inherited by the offspring. In this sense, girls (XX) inherit an X chromosome from the mother and an X chromosome from the father. This means that when the male is affected by Fabry, all his daughters will inherit the anomalous X chromosome. On the contrary, in the case of the children, they will inherit the Y chromosome from the father and the X chromosome from their mother and, therefore, they would not suffer from the disease.
In the case that it is the woman who suffers Fabry (XX), they have a 50% chance of transmitting the abnormal gene to any of their children, whether boys or girls. Only the sons that inherit the altered X chromosome from the mother will present the symptoms of the disease, and if they inherit the normal one, they will not manifest them.
However, in the case of daughters who inherit the anomalous X chromosome.
How Can You Know If You Have Fabry’s Disease?
Confirmation of the diagnosis of a person with Fabry disease is carried out through several tests, called genetic diagnosis, indicated by a specialist and, with which it is possible to find out not only if a person has Fabry, but also if their offspring can be affected and even detect the disease in time. These tests are different depending on the sex of the individual:
In the case of males, they undergo a blood test to evaluate the concentration of the deficient enzyme alpha-galactosidase (a-Gal A). A low level of this enzyme means that the individual has Fabry.
In the case of women, a genetic test is necessary to analyze DNA. This test is more effective in confirming the diagnosis, especially if there is a history of Fabry disease.
Through prenatal diagnosis, the activity of the enzyme a-Gal A can also be measured in the fetal tissues or in the fluids surrounding the fetus. To do this, a biopsy is performed between weeks 10 to 12 of pregnancy. However, the mother must take into account that it is an invasive test with a risk of abortion of 0.5-2%.
For the diagnosis of Fabry’s disease, we must also take into account if there is any family history with this disease, especially if it is a man with kidney failure, heart disease or who has suffered a stroke at a young age. To do this, a family tree will help us recognize if a family member has suffered Fabry, who can suffer it at this time or in the future.
The prognosis for patients with Fabry disease has improved with the use of advanced medical techniques, such as hemodialysis and kidney transplantation. Enzyme replacement therapy prevents long-term complications of Fabry disease.
Enzyme replacement therapy is used to improve symptoms associated with Fabry disease and to stabilize organ function. It is recommended that enzymatic replacement be done as early as possible in males (including children and patients in terminal state of kidney disease who are being treated with dialysis or who had a kidney transplant) and in carrier women who present with signs or serious symptoms.
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