PDF(Pubmed)
Abstract：
Hereditary angioedema (HAE) encompasses a group of diseases characterized by recurrent, genetically mediated angioedema associated with increased vascular permeability primarily due to bradykinin. The disease poses diagnostic challenges, leading to underdiagnosis and delayed therapy. Severe manifestations include laryngeal and intestinal angioedema, contributing to significant morbidity and mortality. If left undiagnosed, the estimated mortality rate of the disease ranges from 25% to 40% due to asphyxiation caused by laryngeal angioedema. There is a pressing need to enhance awareness of hereditary angioedema and its warning signs. The acronym \"H4AE\" may facilitate the memorization of these signs. This study comprehensively reviews clinical, laboratory, and physiopathological features of documented HAE subtypes. The study advocates for an improved HAE classification based on endotypes, building on the knowledge of angioedema pathophysiology. The proposed endotype classification of HAE offers a clear and applicable framework, encouraging advancements in disease understanding and classification.
摘要：
遗传性血管性水肿（HAE）包括一组以复发性，遗传介导的血管性水肿与主要由于缓激肽引起的血管通透性增加有关。这种疾病带来了诊断挑战，导致诊断不足和治疗延迟。严重的表现包括喉和肠血管性水肿，导致显著的发病率和死亡率。如果没有确诊，由于喉血管性水肿引起的窒息，该疾病的估计死亡率为25％至40％。迫切需要提高对遗传性血管性水肿及其警告信号的认识。首字母缩写“H4AE”可能有助于记忆这些标志。本研究全面回顾了临床，实验室,和已记录的HAE亚型的病理生理学特征。该研究主张基于内生型改进HAE分类，建立在血管性水肿病理生理学知识的基础上。提出的HAE的内型分类提供了一个清晰和适用的框架，鼓励疾病理解和分类方面的进步。
