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Fabry Disease - What a Clinician Needs to Know

Dawn Laney



Dawn Laney, MS, CGC, CCRC, Emory University:

There are over 7,000 genetic conditions and you can't expect physicians to know all of them. That's why education for physicians is so important — so they can understand how to prioritize in their patient population on what to really pay attention to and what they will do. Think about who needs to be referred out to genetics or someone who really understands how to navigate all of these complicated genetic conditions.  There are programs, education events,  lectures, and CME opportunities that are out there to help physicians navigate Fabry disease and other treatable genetic conditions.  
 
We put more stock in knowing about Fabry disease at this point because there is a treatment and we know if it's identified early then it's going to make a significant difference in later medical complications.
 
But when we talk about physicians and we talk about rare diseases, they can't know them all. So I think the most important thing is for them to know some key symptoms, some key features of Fabry disease and know who to refer them to get the best care.
 
When we talk about a specific complications and Fabry disease, if a patient with Fabry disease is having a stroke the Fabry part is not as important as it is to getting the patient the care they need for that stroke. When we talk about a patient who has malignant arrhythmia, the most important thing is treating that arrhythmia.  The most important thing about understanding baseline of Fabry disease is understanding the small vessel disease and how that contributes and leads to the complications that you see.  
 
The other important thing is knowing that treatment hopefully can stabilize or decrease symptoms over time. So, when it comes to physicians, you can't expect them to know everything if they're not specialized. But you can expect the specialist to treat the piece he knows with information from geneticists and other specialists involved in Fabry disease who can help inform and who understand the quirks of Fabry disease. For example,  renal failure should be treated with the renal transplant in Fabry patients but what are the  cardiac implications or the stroke implications. Also, depression is very common in Fabry disease and how that may affect a transplant and compliance.
 
So, it is important for physicians to understand Fabry disease but they don't have to be experts. The important part is knowing where to find those Fabry disease experts because that can make the difference in a patient's outcome.
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