Using Symptoms and Healthcare Encounters to Capture a Rare Disease: A Study of Clinical Notes of the Alpha‐Gal Meat Allergy.

This paper examines clinical notes to identify reported symptoms and investigate patient‐provider communication processes in alpha‐gal syndrome (AGS). Clinical notes appear to be a credible and stable source of research where the researcher can find information regarding both symptoms and environmental factors of AGS. Compilation of notes could be used for a checklist to aid in diagnosis. This study analyzed clinicians' notes in patient records retrieved from the Electronic Medical Record Search Engine (EMERSE). The most reported symptoms fell into four general categories: skin (42%), inflammation (17%), gastrointestinal (20%), and anaphylaxis (21%). Environmental triggers were also commonly reported. This in‐depth analysis of clinical notes of AGS can serve as a basis for future automation of rare disease analysis; moreover, it provides a basic understanding of the granularity of information that an electronic health record (EHR) may provide for rare disease identification. [ABSTRACT FROM AUTHOR]