PDF(Pubmed)
Abstract：
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of localized edema caused by a deficiency or dysfunction of C1 inhibitor (C1-INH). This case report presents the clinical features, diagnostic evaluation, and management of a 23-year-old man with HAE. We discuss the challenges of diagnosing and treating this condition, emphasizing the importance of early recognition and appropriate therapeutic interventions.
摘要：
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征是由C1抑制剂（C1-INH）缺乏或功能障碍引起的局部水肿反复发作。此病例报告介绍了临床特征，诊断评估,以及一名23岁的HAE患者的管理。我们讨论了诊断和治疗这种疾病的挑战，强调早期识别和适当治疗干预的重要性。
