Fabry disease patients tire fatiguely during exercise and are often plagued by pain. This can cause problems for children and adolescents at school and with classmates - especially if the disease is still unrecognized and not treated. Due to the pain, many suffer from depression and hopelessness, they feel isolated and alienated from others. It may therefore be helpful for them to join a support group where they can interact with others.
Fabry disease: therapy and treatment
Since the summer of 2001, it has been possible to deliver the missing enzyme in the form of a regular infusion to patients with Fabry disease. By administering the drug, deposits in blood vessels and tissues can be prevented, and any deposits left by the enzyme can be removed. With this therapy, Fabry disease patients have for the first time the good chance to reach normal age.
Important: The earlier the disease is detected, the better it can prevent further progression.
Fabry disease: frequency and heredity
Each person always inherits an X chromosome from the mother and an X or 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, it becomes male (XY).
In Fabry disease, the defective gene is located on the X chromosome. Therefore, both men and women can carry an altered gene because every human being has at least one X chromosome. Because Fabry disease is an X-linked disease, there is no inheritance of the disease from father to son.
Diseased fathers pass on the defective gene to all daughters. Women who have two X chromosomes and carry the genetic defect on a chromosome can be symptomless carriers or have various degrees of serious illness. In any case, they carry the 50% risk of passing the defective gene on to their offspring. Sons who inherit the diseased gene from the mother, get sick in any case.
Important: Affected individuals should have their doctor create a family medical family tree to better understand the risk of inheriting Fabry disease. Such a pedigree may also benefit living relatives and future generations, not just in the context of Fabry disease.