John Jefferies, MD, of the University of Tennessee Health Science Center, discusses the use of Artificial Intelligence (AI) to diagnose Fabry disease.

Fabry disease is a rare lysosomal storage disorder that results in the buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Due to the multisystemic nature and heterogenous presentation of Fabry disease leads to long diagnostic delays for these patients (e.g., approximately 6 years). A cardiologist is often the first specialist to diagnose a Fabry disease patient.

At WORLDSymposium 2021, Dr. Jefferies presented new data showing the feasibility of using AI to identify patients at elevated risk for having Fabry disease. Using medical records from several institutions that included 4978 patients with Fabry disease and 1,000,000 patients without Fabry disease, the model was able to often identify patients at elevated risk of undiagnosed Fabry disease. Dr. Jefferies is hopeful that this technology could be part of regular use in cardiology within 12 months.

To learn more about this and other rare diseases that impact the heart, visit checkrare.com/diseases/heart-diseases/

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