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…
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