Almost 1% of adults in China with an unexplained thickened wall of the heart’s main pumping chamber, called left ventricular hypertrophy (LVH), were diagnosed with Fabry disease, a study involving nearly 1,000 patients shows. “Our data advocate for routine screening for [Fabry] in all adult LVH patients,” the researchers wrote.

Programs that systematically tested for Fabry disease in nearly 1,000 people with chronic pain at centers in France led to a diagnosis in one individual, a new study reports. The low prevalence suggests systematic testing for Fabry in chronic pain patients “does not seem relevant,” researchers wrote. Nonetheless,…

Among people receiving medical care for chronic kidney diseases, a small fraction have Fabry disease, a new study highlights. To ensure these patients get optimal treatment, it’s critical to have screening programs in place to provide a prompt diagnosis — especially early on — according to researchers. “Although the…

More than one in 10 people with Fabry disease have a form of swelling called lymphedema, a recent study reported that highlighted the importance of screening for this type of swelling, which often goes unrecognized. “Strategies to identify lymphedema in a timely manner can facilitate effective treatment and minimize…

A program that screened nearly 500 men with implanted pacemakers for Fabry disease found that none of them had the genetic disorder. The findings “suggest that the prevalence of [Fabry disease] in male patients requiring permanent pacing is very low and does not justify a systematic screening,” according to…

Implementing nationwide screening programs for Fabry disease in people with a heart condition called hypertrophic cardiomyopathy (HCM) may help improve diagnosis of the disease, a study in Czech Republic shows. In the country, the program led to the diagnosis of Fabry in four men and two women among the…

Few nephrologists in Russia are aware of Fabry disease, which is a problem that could be addressed by screening and diagnosing at-risk patients with end-stage renal disease who are undergoing hemodialysis. Also, the highest prevalence of Fabry disease in Russian dialysis units is for men…

A new diagnostic tool that can screen for up to six lysosomal storage disorders, including Fabry disease, in newborns is now available in the United States. PerkinElmer, the kit’s developer, received U.S. Food and Drug Administration (FDA) clearance for commercial use of its NeoLSD MSMS Kit  to…