Fabry disease is due to a mutation that is located on the X chromosome (Xq22.1), which may be a lack or partial deficiency of the lysosomal enzyme alpha galactosidase A. The signs and symptoms associated with Fabry disease will appear almost always in men afflicted with the disorder, while not all women will exhibit.
What Population Is Affected By Fabry Disease For Females?
The Fabry® Registry, a global, observational and voluntary program designed for the collection of clinical data related to the initiation, progress and treatment of Fabry disease and which has 1,077 registered women, states that 69.4 % of these women have signs and symptoms of the disease. Of them, only 7.6% were diagnosed before the onset of symptoms and 20% already had a cerebrovascular, cardiac or renal episode with an average age of 46 years.
Relevant information is that, in 34% of the women, signs of cardiomyopathy were found, of which 50% would not have been detected by a standard echocardiogram or by the evaluation of left ventricular hypertrophy.
For all this, it is important that women know the importance of obtaining an early diagnosis to be treated from the early stages of the disease. This can help keep the disease in the early stages without major complications.
In addition, women who suffer from this pathology should know that it is a hereditary condition and that there is a 50% chance that their children can inherit it. Therefore, the diagnosis and follow-up of those affected and their family members become relevant.
Maternity and Fabry disease
When a woman decides to become a mother, in most cases, fears and questions arise. If you add to this a rare disease like Fabry, the issues are even more numerous: Can I transmit the disease to my son? How can I know? Can inheritance be avoided? … These and many more are usually some of the questions that all affected by Fabry have made when deciding to form a family.
For trying to combat and resolve this type of doubts, so that motherhood is a beautiful process by which women should feel happy and safe, leaving aside their condition, it is necessary to have all the available information about Fabry disease:
Fabry disease is the result of a genetic alteration that is located on the X chromosome and that, being part of DNA, can be inherited by offspring. In cases where it is only the woman who is affected by the disease, there will be 50% of her children (girls or boys) suffering from Fabry. And if it is the father who suffers the pathology, all the daughters will be affected but, on the other hand, none of their children will suffer from the disease.
Currently, so-called genetic studies can be performed that allow knowing the possibilities of a person affected by Fabry disease transmitting this condition to their descendants. In this way, a diagnosis and early treatments would be made, reducing the signs and symptoms of this disease.
Therefore, if a woman wants to be a mother, deciding with professional help is vital, she should not let the disease decide. In addition, good medical advice will allow her to assess all the possibilities and voluntarily decide what she wants. If she is already a mother, she should not feel guilty, because Fabry is another condition that describes her and is part of her. Knowing Fabry allows her to get an early diagnosis and control the disease.
Until a few years ago, it was accepted that inheritance was linked to the X chromosome in a recessive manner and that, consequently, women were carriers and transmitters of the genetic defect, but not sick. This hypothesis has now been declared to the analysis, that the random inactivation of the chromosome is a major factor for the development or not of the clinical characteristics in heterozygous women.
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