Rare Disease Report

Fabry Disease: An X-Linked Genetic Disease

JULY 27, 2017
Dawn Laney

Dawn Laney, MS, CGC, CCRC, Emory University:
Fabry disease is a very interesting condition. It's an x-linked condition which means it's located on the X Chromosome. When you think about our genetics, we have these units of inherited information that helps us grow and develop our bodies.
Fabry disease involves 1 change on the X chromosome and the change itself can be very different from family to family, and some changes are more significant causing eary, more severe problems. And some are a less significant, and some are the middle of the road causing serious problems but maybe later in life.
When we think about Fabry disease, the unique thing is that back in the early days, we thought only men could have symptoms because women have two X chromosomes – so, if a female has a error on 1 of their X chromosomes, the other X chromosome has enough information that can keep it going. But we've learned in Fabry research over the past 20 years that we need both X chromosomes, in most cases. That means that men tend to have the most uniform disease, and they can have the most severe disease course, but women can also have disease just as significantly as men but they could also have it more mildly.  
The way I like to think about it is like a calico cat – women have patches where they have enough genetic information that makes enough enzyme that breaks down what needs to be broken down in the body so they don't have as many symptoms but other women could have problems with their kidneys but their heart is perfectly fine – or they could have severe pain in their hands and feet that relates the nerve pain but they could have no organ issues with their heart or kidneys which is very unique to Fabry disease.  

There are some other genetic conditions that are also X-linked, some of them do have women who show symptoms like Fabry disease but others they don't. Examples of other X-linked conditions that also have women with symptoms would be Duchenne muscular dystrophy, hemophilia type A, and hemophilia type B— these are conditions in the past we really felt that women didn't have signs and symptoms but we've learned differently, mostly from patients. They have educated us and made us really take another look at whether or not our knowledge about genetics really plays true with how
X-linked conditions affect women and men.

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