How is Fabry disease inherited?
Fabry disease is not contagious, but it is a hereditary condition that can be genetically inherited from parents to children.
Every cell in the human body contains chromosomes that carries genetic information. Females have two X chromosomes in each cell (an X from each parent), and males have one X and one Y chromosome (an X from their mother and a Y from their father)1.
The gene that is altered in Fabry disease is located on the X chromosome. This means that men are always affected by the disease, whereas women may not have symptoms, or their symptoms may be less severe or appear later in life2.
A carrier mother will have a 50/50 chance of passing the affected gene to her children (whether a boy or a girl), whereas an affected father will pass on the affected gene to his daughters but not his sons1.
To determine the risk of inheriting Fabry disease for your relatives, a doctor will ask for your family's medical history, and map out genetic relationships on a family tree: this is called pedigree analysis3.
A medical genetic counsellor can work to develop a medical pedigree and establish who within the family is at risk4.