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…
Discussion
People with Fabry disease appear to have an increased capacity to generate thrombin — a key protein involved in blood clot formation — and higher levels of several other clotting-related factors, potentially putting them at a greater risk of developing a blood clot in a blood vessel or the…
Discussion
Switching from the enzyme replacement therapy (ERT) agalsidase alfa to Fabrazyme (agalsidase beta) was associated with reduced pain and lower levels of a disease biomarker in a boy with classic Fabry disease, according to a case report from Japan. The boy was diagnosed through newborn screening and…
Discussion
Four family members with Fabry disease carrying the same GLA mutation showed markedly different neurological manifestations, ranging from recurrent strokes to nerve pain and hearing loss, according to a case series. Brain small-vessel disease was detected in three evaluated adults, while the youngest family member, an 18-year-old girl, had…
Discussion
PTC Therapeutics has been selected as the winning bidder to acquire ST-920 (isaralgagene civaparvovec), a one-time gene therapy candidate for Fabry disease, from the therapy’s original developer, Sangamo Therapeutics, in a competitive bankruptcy auction. PTC said it will leverage existing regulatory and commercial infrastructure, and expects to…
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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