Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records

Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records

Abstract Background Diagnosing rare diseases traditionally requires patients to endure lengthy and challenging journeys to find specialists familiar with their conditions. This study advocates a paradigm shift in rare disease diagnosis, moving from patients seeking physicians to physicians actively...

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Bibliographic Details
Main Authors: Xue Wang, Huizhen Jiang, Ziyang Huang, Chao Dong, Weiguo Zhu, Shuyang Zhang, Yuxiang Zhi
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Proactive diagnosis
Electronic medical records
Hereditary angioedema
Rare diseases
Online Access:https://doi.org/10.1186/s13023-025-03882-2
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https://doi.org/10.1186/s13023-025-03882-2

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