Fabry disease patients tire quickly under physical exertion and are often plagued by pain. In children and adolescents, this can lead to problems at school and with classmates – especially if the disease is not yet recognized and treated. Because of the pain, many sufferers suffer from depression and hopelessness, feeling isolated and alienated from others. It can therefore be helpful for them to join a self-help group where they can exchange ideas with others.
Fabry disease: therapy and treatment
Since the summer of 2001, it has been possible to supply Fabry disease patients with the missing enzyme in the form of a regular infusion. Administration of the drug can prevent deposits in blood vessels and tissues, and existing deposits can be cleared away by the enzyme. With this therapy, Fabry disease patients have a good chance of reaching a normal age for the first time.
Importantly, the earlier the disease is detected, the better it is to prevent further progression.
Fabry disease: incidence and heredity.
Every person always inherits an X chromosome from the mother and an X or a Y chromosome from the father. If the father passes on an X chromosome, the child becomes female (XX); if the child inherits a Y chromosome, he or she becomes male (XY).
In Fabry disease, the defective gene is located on the X chromosome. Therefore, both males and females can carry an altered gene because everyone has at least one X chromosome. Since Fabry disease is an X-linked disease, there is no inheritance of the disease from father to son.
However, affected fathers pass the defective gene to all daughters. Women who have two X chromosomes and carry the genetic defect on one chromosome may be symptomless carriers or may have varying degrees of disease. In any case, they carry a 50 percent risk of passing the defective gene to their offspring. Sons who inherit the defective gene from their mother will always develop the disease.
Important: Affected persons should have a medical family tree drawn up by their doctor, which will enable them to better assess the inheritance risk of Fabry disease. Such a family tree can also be of use to living relatives and future generations – not only in the context of Fabry disease.
