News

Doctors who treat Fabry disease tend to underappreciate the effect that symptoms like abnormal sweating and digestive complaints can have on a person’s quality of life, according to a new study conducted in Japan. The study also highlighted a disconnect in communication between doctors and patients when it comes…

Left ventricular hypertrophy (LVH) — a condition when the walls of the heart’s left pumping chamber (left ventricle) become thickened — accompanied by damages to peripheral nerves and hearing impairments could be signs of late-onset Fabry disease, according to a case report. “This case serves as a potent reminder…

A man with Fabry disease undergoing long-term dialysis to support kidney function and receiving enzyme replacement therapy (ERT) experienced recurrent complications related to blood vessels in his brain, a case study reported. While further investigation into such cases is needed, the researchers recommended that Fabry patients with end-stage…

The risk of severe COVID-19 in people with Fabry disease appears to be driven by immune system function rather than by the genetic disorder itself — “similar to the general population” — a small study concluded. “Immunosuppression therapy in kidney transplant recipients represented the highest risk in this [patient]…

The Fabry disease burden is variable but significant among adolescents and caregivers, affecting their quality of life and mental health, according to results of online surveys in three European countries. In addition, standard enzyme replacement therapy (ERT) was reported to reduce the disease’s burden, but not fully. These findings highlight…

High levels of calciprotein particles (CPP) — tiny structures that transport excess minerals in the bloodstream — were found in adults with Fabry disease who have a low bone mineral density (BMD), a study revealed for the first time. The hip bone and the top of the upper leg…

A clinical study in the U.K. is recruiting adults with Fabry disease (FD) to determine whether implantable loop recorders (ILRs) — a device for continuous heart monitoring — can improve arrhythmia detection and identify risk predictors for cardiac problems. Participants’ heart rhythms will be tracked, using the surgically implanted…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

Mendelics and Takeda are partnering for a new program that aims to use a genetic sequencing strategy to make diagnosis of Fabry disease easier and faster. Fabry disease is caused by mutations in the GLA gene located on the X chromosome. This gene provides instructions for making the alpha-galactosidase…

A rare case of end-stage kidney disease was discovered in a young boy with Fabry disease, a case study reported. In such cases of unexplained kidney failure in children, a detailed family history should be taken, and Fabry considered a possible cause, the researchers recommended. The case study, “…