Andrea Zanichelli1, Hilary J Longhurst2, Marcus Maurer3, Laurence Bouillet4, Werner Aberer5, Vincent Fabien6, Irmgard Andresen6, Teresa Caballero7. 1. Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, ASST Fatebenefratelli Sacco, Milan, Italy. Electronic address: andrea.zanichelli@unimi.it. 2. Department of Immunology, Barts Health NHS Trust, London, United Kingdom. 3. Department of Dermatology and Allergy, Allergie-Centrum-Charité, Charité-Universitätsmedizin Berlin, Berlin, Germany. 4. National Reference Centre for Angioedema, Internal Medicine Department, Grenoble University Hospital, Grenoble, France. 5. Department of Dermatology and Venereology, Medical University of Graz, Graz, Austria. 6. Shire, Zug, Switzerland. 7. Allergy Department, Hospital La Paz Institute for Health Research, Biomedical Research Network on Rare Diseases (CIBERER, U754), Madrid, Spain.
Abstract
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 frequently misdiagnosed, 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 as having 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 common misdiagnoses were allergic angioedema (103 of 185) and appendicitis (50 of 185). A variety of other misdiagnoses were reported, including a substantial number of gastrointestinal disorders (excluding appendicitis). Misdiagnosis rates were similar between males (41.1%) and females (46.5%) and between C1-INH-HAE type I (43.7%) and type II (51.6%). Patients with family members diagnosed as having C1-INH-HAE were significantly less likely to be misdiagnosed than patients without a family history (140 of 366 [41.7%] vs 38 of 58 [65.5%], respectively; P = .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. TRIAL REGISTRATION: ClinicalTrials.gov: NCT01034969.
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 frequently misdiagnosed, 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 as having 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 common misdiagnoses were allergic angioedema (103 of 185) and appendicitis (50 of 185). A variety of other misdiagnoses were reported, including a substantial number of gastrointestinal disorders (excluding appendicitis). Misdiagnosis rates were similar between males (41.1%) and females (46.5%) and between C1-INH-HAE type I (43.7%) and type II (51.6%). Patients with family members diagnosed as having C1-INH-HAE were significantly less likely to be misdiagnosed than patients without a family history (140 of 366 [41.7%] vs 38 of 58 [65.5%], respectively; P = .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. TRIAL REGISTRATION: ClinicalTrials.gov: NCT01034969.
Authors: Marcel Gutierrez; Camila L Veronez; Solange O Rodrigues Valle; Rozana Fátima Gonçalves; Mariana Paes Leme Ferriani; Adriana S Moreno; L Karla Arruda; Marcelo Vivolo Aun; Pedro Giavina-Bianchi; Maria Luiza Oliva Alonso; Joao B Pesquero; Anete S Grumach Journal: Clin Rev Allergy Immunol Date: 2021-03-23 Impact factor: 8.667
Authors: Marcin Sochal; Agata Gabryelska; Marek K Kowalski; Katarzyna Biernacka; Anna Lewandowska-Polak; Marek L Kowalski; Ewa Małecka-Panas Journal: Prz Gastroenterol Date: 2018-03-26