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Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting

Filename 244. Zanichelli et al., Misdiagn. HAE,AAAI2016.pdf
Filesize 308,08 kB
Version o.244
Date added Juli 30, 2020
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Category Original Work
Authors Zanichelli, A., Longhurst, H. J., Maurer, M. Bouillet, L., Aberer, W., Fabien, V., Andresen, I., and Caballero, T.
Citation Zanichelli, A., Longhurst, H. J., Maurer, M. Bouillet, L., Aberer, W., Fabien, V., Andresen, I., and Caballero, T.: Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting. Ann. Allergy Asthma Immunol. 2016: 117; 394-398.
Corresponding authors Zanichelli, A.
DocNum O.244
DocType PDF
Edition; Page 117; 394-398
IF 3.72
Publisher Ann. Allergy Asthma Immunol.
ReleaseDate 2016

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) causes swelling in the skin and upper airways and pain in the abdomen because of mucosal swelling. C1-INH-HAE is frequentlymisdiagnosed, leading to delays in diagnosis, inadequate treatment, and unnecessary procedures.

Objective: To evaluate the history of misdiagnosis in patients participating in the Icatibant Outcome Survey(IOS).

Methods: The IOS is an observational study in which safety and effectiveness of icatibant have been evaluated since 2009. As part of the IOS, patients record any misdiagnoses received before being diagnosed ashaving C1-INH-HAE.

Results: In January 2016, a total of 418 of 633 IOS patients with C1-INH-HAE type I or II had provided misdiagnosis data. Of these, 185 of 418 (44.3%) received 1 or more prior misdiagnoses. The most commonmis diagnoses were allergic angioedema (103 of 185) and appendicitis (50 of 185). A variety of other mis-diagnoses were reported, including a substantial number of gastrointestinal disorders (excluding appendi-citis). Misdiagnosis rates were similar between males (41.1%) and females (46.5%) and between C1-INH-HAEtype I (43.7%) and type II (51.6%). Patients with family members diagnosed as having C1-INH-HAE weresignificantly less likely to be misdiagnosed than patients without a family history (140 of 366 [41.7%] vs 38of 58 [65.5%], respectively;P¼.001). Patients with a prior misdiagnosis had longer median delay to C1-INH-HAE diagnosis (13.3 years) than patients without (1.7 years;P<.001).

Conclusion: From this large database, approximately 50% of patients with C1-INH-HAE type I or II have previously had their conditions misdiagnosed, most commonly as allergic angioedema or appendicitis. Misdiagnosis results in marked delays in receiving the correct diagnosis, during which time patients cannot access effective, lifesaving treatment.

 

(Last update: 12.2023)

Number of original publications in peer-reviewed journals:580
Number of reviews in peer-reviewed journals:210
Number of publications (original work and reviews) in peer-reviewed journals:790
Cumulative IF for original publications in peer-reviewed journals:4196.39
Cumulative IF for reviews in peer-reviewed journals:1409.32
Cumulative IF of publications (original work & reviews) in peer-reviewed journals:5605.71
Total number of citations: 36,836, h-index: 99 (Web of Science December 2023)36836

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