Could it be Fabry? A plea from the heart


This Fabry Awareness month we are featuring a series of articles titled “Could it be Fabry?” from guest blogger Loretta MacInnes, a Fabry patient who wasn’t diagnosed until she was 50 despite having symptoms since childhood.


Information contained in these articles has been collected and written by our guest blogger and does not necessarily reflect the opinions of the MPS Society or its Board of Trustees.


From the heart


Fabry Disease can affect the heart and there are specific cardiac issues that are red flags if you know what to look for.


Upon reflection, I had issues with my heart that began in my twenties. During my first pregnancy, my GP noticed a murmur and sent me to see a cardiologist at the local hospital. This cardiologist didn’t even examine me. He was dismissive and told me that I was too young to have any heart issues. I definitely would not tolerate that lack of professional care now – but at the time I accepted it. I have no idea if my ECG was abnormal at that time as I didn’t have one.


I was generally fine, except I became unable to work out for any length of time and was constantly exhausted. But I put this down to being a new mother and working long hours.


The first time I went to the hospital with chest pain my blood pressure was high and my heart rhythm a little odd, but this all settled down after a short time. I was referred for an exercise stress test. The stress test showed some abnormalities and I was referred for a cardiac angiogram. I was told I had a blockage.


I wasn’t stented as the consultant suspected this was an artery spasm. I was given the option of medication to treat this, but as it was only suspected