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巴基斯坦人群遗传性血管性水肿的症状、诱因和前驱症状

Symptoms, Triggers, and Prodromes of Hereditary Angioedema in the Pakistani Population.

临床研究咽喉科IF 1Q3

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中文摘要

本横断面观察性研究于2021年9月至2024年12月在巴基斯坦拉瓦尔品第武装部队病理学研究所/CMH/NUMS免疫学系进行。旨在确定巴基斯坦人群遗传性血管性水肿(HAE)常见表现、诱因和前驱症状的频率。使用专门设计的问卷对50例HAE病例进行了筛查。最常见的症状是腹痛(92%),其次是手和脚肿胀(66%)、眼睑(60%)、嘴唇(58%)、面部(56%)、喉水肿(56%)和生殖器肿胀(28%)。常见诱因包括食物(42%)、压力(42%)、感染/发热(34%)、创伤/手术(22%)和疲劳(20%)。最常见的前驱症状是肿胀部位的不适(64%),其次是刺痛感(36%)、恶心(22%)、乏力(16%)、疲劳(16%)和皮疹(4%)。由于认识有限和诊断设施不足,HAE在巴基斯坦诊断不足。识别其临床特征对于早期诊断、管理和改善预后至关重要。关键词:临床特征,C1酯酶,C4水平,遗传性血管性水肿,前驱症状,诱因。

英文摘要

This cross-sectional observational study was conducted at the Department of Immunology, Armed Forces Institute of Pathology/ CMH / NUMS, Rawalpindi, Pakistan, from September 2021 to December 2024. It aimed to identify the frequency of common presentations, triggers, and prodromes of hereditary angioedema (HAE) in the Pakistani population. Fifty HAE cases were screened using a specially designed questionnaire. The most common symptom was abdominal pain (92%), followed by swelling of hands and feet (66%), eyelids (60%), lips (58%), face (56%), laryngeal oedema (56%), and genital swelling (28%). Common triggers included food (42%), stress (42%), infection/fever (34%), trauma/surgery (22%), and fatigue (20%). The most frequent prodrome was discomfort at the site of swelling  (64%), followed by tingling (36%), nausea (22%), asthenia (16%), fatigue (16%), and rash (4%). HAE is underdiagnosed in Pakistan due to limited awareness and diagnostic facilities. Recognising its clinical features is essential for early diagnosis, management, and improved outcomes. Key Words: Clinical features, C1 esterase, C4 levels, Hereditary angioedema, Prodromes, Triggers.