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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BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03882-2 |
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| author | Xue Wang Huizhen Jiang Ziyang Huang Chao Dong Weiguo Zhu Shuyang Zhang Yuxiang Zhi |
| author_facet | Xue Wang Huizhen Jiang Ziyang Huang Chao Dong Weiguo Zhu Shuyang Zhang Yuxiang Zhi |
| author_sort | Xue Wang |
| collection | DOAJ |
| description | 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 identifying patients. Using hereditary angioedema (HAE) as an example, we demonstrate how this approach, supported by electronic medical records (EMRs), enables proactive care for patients with rare diseases. Our EMR system incorporates a free-text search engine to screen for patients with potential HAE based on clinical symptoms and laboratory tests. Search terms include recurrent skin edema, abdominal pain, laryngeal edema, and/or decreased C4 levels. Suspected cases are followed up by telephone calls from trained physicians, inviting patients to undergo confirmatory C1-INH and C4 testing and genetic testing to ensure accurate diagnosis and appropriate treatment. Results Of 2,689 patients who met the screening criteria, 3,441 records were analyzed. Ninety-five patients had already been diagnosed with HAE. After excluding those with a known etiology for edema or characteristics inconsistent with HAE, three patients with unexplained cutaneous edema, abdominal pain, and/or laryngeal edema were included in the final screening. Laboratory tests confirmed HAE in all three, highlighting the effectiveness of this proactive approach. Conclusions This study underscores the transformative potential of EMRs in diagnosing rare diseases. By shifting the responsibility of identifying rare diseases from patients to healthcare professionals, we expedite diagnosis and exemplify the spirit of service in medicine, ensuring patients with rare diseases receive timely and effective care. |
| format | Article |
| id | doaj-art-027cf9e4577b461c8c1fd152f0044ff0 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-027cf9e4577b461c8c1fd152f0044ff02025-08-20T03:46:21ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-012011910.1186/s13023-025-03882-2Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical recordsXue Wang0Huizhen Jiang1Ziyang Huang2Chao Dong3Weiguo Zhu4Shuyang Zhang5Yuxiang Zhi6Department of Allergy & Clinical Immunology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Immunologic DiseasesDepartment of Information Center, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical SciencesDepartment of Information Center, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical SciencesDepartment of Information Center, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical SciencesDepartment of Primary Care and Family Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeDepartment of Allergy & Clinical Immunology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Immunologic DiseasesAbstract 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 identifying patients. Using hereditary angioedema (HAE) as an example, we demonstrate how this approach, supported by electronic medical records (EMRs), enables proactive care for patients with rare diseases. Our EMR system incorporates a free-text search engine to screen for patients with potential HAE based on clinical symptoms and laboratory tests. Search terms include recurrent skin edema, abdominal pain, laryngeal edema, and/or decreased C4 levels. Suspected cases are followed up by telephone calls from trained physicians, inviting patients to undergo confirmatory C1-INH and C4 testing and genetic testing to ensure accurate diagnosis and appropriate treatment. Results Of 2,689 patients who met the screening criteria, 3,441 records were analyzed. Ninety-five patients had already been diagnosed with HAE. After excluding those with a known etiology for edema or characteristics inconsistent with HAE, three patients with unexplained cutaneous edema, abdominal pain, and/or laryngeal edema were included in the final screening. Laboratory tests confirmed HAE in all three, highlighting the effectiveness of this proactive approach. Conclusions This study underscores the transformative potential of EMRs in diagnosing rare diseases. By shifting the responsibility of identifying rare diseases from patients to healthcare professionals, we expedite diagnosis and exemplify the spirit of service in medicine, ensuring patients with rare diseases receive timely and effective care.https://doi.org/10.1186/s13023-025-03882-2Proactive diagnosisElectronic medical recordsHereditary angioedemaRare diseases |
| spellingShingle | Xue Wang Huizhen Jiang Ziyang Huang Chao Dong Weiguo Zhu Shuyang Zhang Yuxiang Zhi Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records Orphanet Journal of Rare Diseases Proactive diagnosis Electronic medical records Hereditary angioedema Rare diseases |
| title | Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records |
| title_full | Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records |
| title_fullStr | Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records |
| title_full_unstemmed | Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records |
| title_short | Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records |
| title_sort | proactive identification of rare diseases lessons from hereditary angioedema diagnosis using electronic medical records |
| topic | Proactive diagnosis Electronic medical records Hereditary angioedema Rare diseases |
| url | https://doi.org/10.1186/s13023-025-03882-2 |
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