A long-term study found that adults and children with Fabry disease receiving enzyme replacement or chaperone therapy generally maintain stable vision and eye structures over a median of 6.5 years. While the nerve fiber layer in the retina — the light-sensitive tissue at the back of the eye —…
Discussion
I remember first struggling with strenuous activity as a young boy in middle school. Even before then, I wasn’t as active as my siblings and friends. I avoided activities that required a lot of exertion and accepted that I couldn’t keep up. I remember getting tired quickly and overheating easily.
Discussion
Kidney involvement in Fabry disease can begin early, even before symptoms or marked loss of kidney function develop, a study has found, highlighting the importance of early diagnosis and monitoring. “These findings support kidney surveillance from childhood onward,” researchers wrote in “Clinical and Laboratory Characteristics of Fabry Disease…
Discussion
Doctors identified a previously unreported mutation in the GLA gene as the cause of Fabry disease in a woman whose disease mainly affected the heart. The woman received an implantable cardioverter-defibrillator to help protect against dangerous heart rhythm oscillations and later began enzyme replacement therapy with Fabrazyme (agalsidase beta). She…
Discussion
Careful examination of the heart’s structure raised suspicion of late-onset Fabry disease in a 72-year-old man whose heart abnormalities could not be fully explained by his existing health conditions, a case report describes. The suspected diagnosis emerged only after the man died and an autopsy revealed a severely enlarged…
Discussion
Dallas residents are all talking about the unrelenting heat this year, as we’ve logged 52 days over 100 F. Besides the physical effects of bone-dry lawns, cracking foundations, and blistering-hot sidewalks, there are scary yet less visible effects of the heat wave on public health. Local officials warn…
Discussion
Treatment with sodium-glucose cotransporter-2 inhibitors (SGLT2i), a medication used for type 2 diabetes, may reduce the risk of death and heart attacks in people with Fabry disease, according to a new analysis. “In this real-world cohort of patients with [Fabry disease], exposure to [SGLT2i] was associated with a lower…
Becoming educated and informed about Fabry disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your Fabry disease journey.
There is no cure for Fabry disease yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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