Marisa Wexler, MS, senior science writer —

A new evaluation tool, the FAbry STabilization indEX (Fastex), can help detect disease progression in individuals with Fabry disease, and could become useful in routine practice and clinical trial assessments. The tool was described in a paper, titled “FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in…

Galafold (migalastat) is an effective treatment for certain Japanese people with Fabry disease, with no apparent differences in response to treatment due to race, a new analysis of data from the ATTRACT study suggests. The findings were published in the Orphanet Journal of Rare Diseases in…

Detectable differences in blood vessel architecture in the eyes of people with Fabry disease could prove useful in diagnosing the disease early, a study has found. The study, “Optical Coherence Tomography Angiography Findings in Fabry Disease,” was published in the Journal of Clinical Medicine.  Fabry disease…

Kidney biopsies can be instrumental in diagnosing Fabry disease, particularly in females for whom symptoms can vary widely, a new case report contends. The report, “A case of female Fabry disease revealed by renal biopsy,” was published in CEN Case Reports. Fabry disease is caused by mutations in…

Even with treatment, people with Fabry disease often experience pain to an extent that it affects their quality of life, a study based on a survey of more than 350 patients reports. Diarrhea was also a commonly reported problem, but more often in male respondents than female. “…

Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, a study suggests. Titled “Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease,” the study was published in the journal Mayo Clinic Proceedings. Fabry…

The screening tool FabryScan — consisting of a physical assessment and a questionnaire — may be useful in diagnosing Fabry disease among people with unclassified pain, according to a new study. The study, “Stratification of patients with unclassified pain in the FabryScan database,” was published in the Journal of…