FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.

Purpose: Fabry disease (FD) is a rare, X-linked, lysosomal storage disease characterized by great variability in clinical presentation and progressive multisystemic organ damage. Lack of awareness of FD and frequent misdiagnoses cause long diagnostic delays. To address the urgent need for earlier diagnosis, we created an online, risk-assessment scoring tool, the FDrisk, for predicting an individual's risk for FD and prompting diagnostic testing and clinical evaluation.