S Liu1, X Wang1, Yingyang Xu1, Qun Xu2, Yuxiang Zhi1. 1. From the Department of Allergy, Chinese Academy of Medical Sciences and Peking Union Medical College Hospital, Beijing, China. 2. Department of Epidemiology and Biostatistics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, China.
Abstract
Background: Hereditary angioedema (HAE) is still underdiagnosed or diagnosed after a serious delay. This study aimed to evaluate the diagnostic delay (DD) and misdiagnosis of HAE, and to explore the risk factors associated with a longer DD. Methods: An Internet-based survey was sent to 129 patients with type 1 and 2 HAE who presented to the Allergy Department, Peking Union Medical College Hospital between 1983 and 2017; 107 patients (82.9%) responded, among whom, a total of 96 patients provided complete information about medical visits. DD was divided into two subperiods according to the lower quartile, i.e., DD ≤ 6 years and DD > 6 years. Results: The median DD of all 96 patients with HAE was 11.04 years (interquartile range [IQR], 6.06-18.27 years). A significant difference (p < 0.001) in the median DD was found between different decades of onset, i.e., before 1999 (19.75 years [IQR, 13.58-29.50 years]), between 2000 and 2009 (8.67 years [IQR, 5.67-11.04 years]), and between 2010 and 2017 (3.79 years [IQR, 2.29-5.71 years]). Patients with a previous misdiagnosis experienced a longer median delay to complement 1 inhibitor HAE diagnosis (13.17 years [IQR, 7.40-20.50 years]) compared with patients without a previous misdiagnosis (median 6.96 years [IQR, 2.83-10.65 years]; p ≤ 0.001). According to the logistic regression analysis, a younger age of onset and earlier decade of onset were significant predictors of a DD of >6 years. The most frequently visited departments and most frequently misdiagnosed diseases were summarized. Conclusion: The median DD of patients with HAE was 11.04 years (IQR, 6.06-18.27 years). A younger age of onset and earlier decade of onset were predictors of a DD of >6 years. Seventy-five percent of the patients reported receiving more than one previous misdiagnosis. The patients with a previous misdiagnosis had longer DDs compared with patients without a misdiagnosis.
Background: Hereditary angioedema (HAE) is still underdiagnosed or diagnosed after a serious delay. This study aimed to evaluate the diagnostic delay (DD) and misdiagnosis of HAE, and to explore the risk factors associated with a longer DD. Methods: An Internet-based survey was sent to 129 patients with type 1 and 2 HAE who presented to the Allergy Department, Peking Union Medical College Hospital between 1983 and 2017; 107 patients (82.9%) responded, among whom, a total of 96 patients provided complete information about medical visits. DD was divided into two subperiods according to the lower quartile, i.e., DD ≤ 6 years and DD > 6 years. Results: The median DD of all 96 patients with HAE was 11.04 years (interquartile range [IQR], 6.06-18.27 years). A significant difference (p < 0.001) in the median DD was found between different decades of onset, i.e., before 1999 (19.75 years [IQR, 13.58-29.50 years]), between 2000 and 2009 (8.67 years [IQR, 5.67-11.04 years]), and between 2010 and 2017 (3.79 years [IQR, 2.29-5.71 years]). Patients with a previous misdiagnosis experienced a longer median delay to complement 1 inhibitor HAE diagnosis (13.17 years [IQR, 7.40-20.50 years]) compared with patients without a previous misdiagnosis (median 6.96 years [IQR, 2.83-10.65 years]; p ≤ 0.001). According to the logistic regression analysis, a younger age of onset and earlier decade of onset were significant predictors of a DD of >6 years. The most frequently visited departments and most frequently misdiagnosed diseases were summarized. Conclusion: The median DD of patients with HAE was 11.04 years (IQR, 6.06-18.27 years). A younger age of onset and earlier decade of onset were predictors of a DD of >6 years. Seventy-five percent of the patients reported receiving more than one previous misdiagnosis. The patients with a previous misdiagnosis had longer DDs compared with patients without a misdiagnosis.