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…

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…

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…

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…

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…

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…