Author Archives: Ana Pena, PhD

Newborn screening programs are the best way to diagnose Fabry disease early in infancy — enabling timely enzyme replacement therapy before the disease causes tissue and organ damage — and potentially lead to the diagnosis in other family members, a study suggests. Such a program in western Japan estimated a…

Certain cells in patients with Fabry disease seem to age more rapidly than in healthy people, which may explain why patients have a shorter lifespan compared to the general population, a study has found. By measuring “molecular clocks” linked to aging, called telomeres, researchers saw that cells from…

Rats that mimic Fabry disease develop eye symptoms like those observed in human patients. These animals can be used to test current and future therapies for eye problems resulting from the disease, as well as provide new insights into their underlying biology. The study with that finding, “Rats deficient…

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…

Patients with mild Fabry disease do not have a higher prevalence or severity of obstructive sleep apnea when compared with the general population, a study suggests. However, these patients experience more daytime sleepiness and more airflow blockages during sleep, and any of these problems…

Although most women with Fabry disease have mild but typical manifestations, many are not prescribed enough treatment, including enzyme replacement therapy (ERT), according to a Spanish study. The study, “Clinical profile of women diagnosed with…

Newborn screening with enzymatic testing can effectively detect Fabry disease in infants, a four-year study by the public health system in the U.S. state of Missouri suggests. The study, “Incidence of 4 Lysosomal Storage Disorders From 4 Years…

Genetic and enzymatic screening of people in Spain revealed that the real prevalence of Fabry disease is likely underestimated, and that late diagnosis is detrimental to patients because of delayed treatment. The study, “Fabry disease in the Spanish population: observational study with detection…

A specific mutation in the GLA gene is associated with late-onset Fabry disease, and primarily affects the heart with more severe symptoms in males, according to researchers who received information from an international Fabry disease registry.  Cardiac problems in people carrying this mutation may become…

Personalized care with timely treatment and regular monitoring should be given to adults with Fabry disease to prevent irreversible tissue damage and organ failure, a study reported. Researchers gathered and analyzed recently proposed recommendations for the management and treatment of adults with Fabry disease in a review…