Family testing

Because Fabry disease is an X-linked disease, it is likely that other family members of an affected individual have Fabry disease too. Family screening enables a doctor to diagnose and monitor family members with Fabry disease properly and manage the disease.

‘Family screening’ is a way to find out if other family members are affected by the disease as well. If family members want to participate in family screening, a genetic and/or enzyme activity test should be done from a blood sample. This test will determine whether family members are also affected by Fabry disease. Patients can help their doctor by making a ‘family tree’ with the names of their family members including grandparents, aunts, uncles and cousins.

For those family members who have the faulty gene, but no health problems at the moment, the doctor can regularly monitor them for possible development of signs or symptoms of Fabry disease and give them appropriate care if such signs/symptoms appear. For those family members who do not have the faulty gene, it can bring peace of mind.

The process of family screening can be very emotional for family members and should be managed by a trained heath care professional or genetic counsellor. They can help:

  • Research family history
  • Provide information and support families to make decisions about testing and treatment
  • Listen and advise if there are any worries about the process
  • Help to bring in contact with patient associations

Below an example is shown how to make a family tree. It is advised to complete the family tree with the help of a health care professional or genetic counsellor. How to make a Fabry family tree:

  • Write in each family member’s name
  • Indicate their sex with ‘M’ for male or ‘F’ for female
  • Fill in the circle when having a confirmed diagnosis of Fabry disease
  • Add current age (if living)
  • List any symptoms that they have had over the course of their life