Cobb Gavin, Bernabe Celina C
College of Medicine, Kansas City University, Kansas City, USA.
Allergy and Immunology, Allergy & Asthma Care PA, Overland Park, USA.
Cureus. 2023 Jan 15;15(1):e33800. doi: 10.7759/cureus.33800. eCollection 2023 Jan.
Hereditary angioedema (HAE) was classically thought to be related to a deficiency in the C1 esterase inhibitor (C1-INH). However, HAE with a normal C1 esterase inhibitor (HAE nC1-INH) is a rare disease that has been recently characterized. In this case, we describe a woman with a 21-year history of angioedema who, in the last two years, has experienced severe exacerbations that led to the formal diagnosis of HAE nC1-INH. The patient has been treated with current HAE long-term prophylaxis (LTP) and on-demand therapies but is still experiencing severe, frequent attacks. Our case describes the timeline of this patient's presentation and provides valuable insight into the presentation and management of HAE nC1-INH.
遗传性血管性水肿（HAE）传统上被认为与C1酯酶抑制剂（C1-INH）缺乏有关。然而，C1酯酶抑制剂正常的遗传性血管性水肿（HAE nC1-INH）是一种最近才被明确特征的罕见疾病。在本病例中，我们描述了一名有21年血管性水肿病史的女性，在过去两年中，病情严重加重，最终被正式诊断为HAE nC1-INH。该患者一直在接受目前的HAE长期预防（LTP）和按需治疗，但仍频繁经历严重发作。我们的病例描述了该患者的发病时间线，并为HAE nC1-INH的表现和管理提供了有价值的见解。
