A genetic screening study found a higher-than-expected prevalence of undiagnosed Fabry disease in people who had kidney failure and transplant without a known cause. When the screening was extended to related family members, additional unidentified cases were found and treated early. The findings led…
Sleep disorders are common in people with Fabry disease. Here are some explanations as to why disturbed sleep affects these patients, with suggestions of ways to possibly address sleep issues. What is Fabry disease? Fabry disease is a rare metabolic disease caused by mutations in the GLA…
Physicians should consider Fabry disease when trying to determine the cause of recurrent episodes of fever in a patient that have no known or readily identifiable source, a case report highlighted. The study, “Recurrent fever of unknown origin: An overlooked symptom of Fabry disease,” was published in…
While not a classic symptom of Fabry disease, chronic fatigue is common among patients. But there are steps you can take to boost your energy and combat fatigue. About Fabry disease Fabry disease is a rare genetic lysosomal storage disorder characterized by an impaired ability to…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is…
The European Commission has granted orphan drug designation to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. The decision, based on a positive opinion from the Committee for Orphan Medicinal Products of the European Medicines Agency, will provide regulatory and financial incentives for…
Patients with Fabry disease may develop neurological symptoms, including seizures. While rare, these can be life-altering. Following is information about how Fabry disease and seizures may be linked. What is Fabry disease? Fabry disease is a rare genetic disorder caused by mutations in the GLA gene. This gene contains…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
Chiesi Global Rare Diseases has launched a campaign called “Rethink Fabry” that seeks to help people with the rare genetic disorder, along with their caregivers and family members, to make informed healthcare decisions. The Italian pharmaceutical’s “disease education program,” currently intended for U.S. residents only, also includes new…
People with Fabry disease may need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different types of anesthesia, how Fabry disease may complicate their use, and precautions doctors should take before and while using them. What is anesthesia? Anesthesia is the use…
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