Genetics of Fabry Disease

Published by Luke Morais on

Genetics of Fabry Disease


What is Fabry Disease?

Fabry Disease is a rare genetic disorder, which causes a specific type of fat to build up in the body’s cells, which can lead to several health problems. Symptoms of Fabry Disease can vary from person to person. Symptoms may include:

  • Pain in the hands and feet
  • Clusters of small dark red spots on the skin, 
  • Changes in the eye
  • Problems with the stomach or bowel. 

Fabry Disease can also lead to serious complications like kidney damage, heart disease, and stroke. There is currently no cure for Fabry Disease, but there are treatments that can help manage symptoms and slow the progression of the disease. 

How was the research done?

Researchers use a computer program to look through electronic health records of around two million people. These records don’t have any personal information, so researchers can’t tell who they belong to. They choose records who may have Fabry Disease, based on certain keywords that are related to the disease. When they choose these potential cases, they test their DNA for Fabry Disease. Researchers look at the medical records of patients who already have Fabry Disease. They look to see if there were any missed opportunities to diagnose the disease earlier. For example, if a patient had symptoms of Fabry Disease when they were 12 and 25, but was only diagnosed when they were 32, those are opportunities. Researchers look at how much the patient’s health might have improved if the disease was diagnosed earlier. They will create a plan for how to better diagnose and treat Fabry Disease. This plan would make sure that the health care system supports finding and treating patients with Fabry Disease.


What is the importance of this study?

Fabry Disease is an inherited disorder. The more we study it, the better we can understand how it works and why it happens. This can help us explain it to people who have the disease and their families. Fabry Disease can be hard to diagnose because its symptoms are like many other diseases. Studying it can help doctors and scientists figure out better ways to identify it early.